ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #5 -                                                 
ABNORMAL


Cases with
clinical findings
Similar imbalances -
no sSMC 
Cases with isochromosome 5p
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases (sSMC) with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER


In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!

UPD (uniparental disomy) cases: UPD(5)mat UPD(5)pat UPD(5)mat or pat

Cases with isochromosome 5p (W-iso)

case no.
 gender/
age at diagnosis
studied
material
 de novo/
inherited
 GTG-banding result
grade of mosaicism
 final result of the sSMC
 test
methods
 clinical symptoms
 Reference
05-
W-
iso/
1-1 to
1-3		 inv dup(5)(pter→q10::q10→pter) 3 cases {30} 3 case summarized from {23, 49, 50}
05-
W-
iso/
1-4		 female/
prenatal		 AF de novo 47,XX,+mar[10]/
46,XX[20]		 inv dup(5)(pter→q10:
:q10→pter)		 M-FISH; pcp5 different ultrasound abnormalities {51} case 2
05-
W-
iso/
1-5 to
1-6		 female/
prenatal		 AF de novo 47,XX,+mar[5]/
46,XX[10]
or
47,XX,+mar[10]/
46,XX[5]		 inv dup(5)(pter→q10:
:q10→pter)		 wcp 5? different ultrasound abnormalities {19}cases 54-55
05-
W-
iso/
1-7		 male/
prenatal		 CH/AF de novo CH: 47,XY,+mar[4]/
46,XY[26]
AF: 47,XY,+mar[24]		 inv dup(5)(pter→q10:
:q10→pter)		 D5S23, D5S721 see below {37} twin A
different ultrasound abnormalities in one twin; spontaneous abortion of both twins; autopsy showed among others tiny palpebral fissure, cystic hygroma, cleft palate, abnormal positioning of great toes, bilateral clubbed feet,, obstructive renal changes, hypoplastic bladder, hypospadias, unspecified cardiac defect, omphalocele, imperforate anus, oligohydramnios
05-
W-
iso/
1-8		 male/
prenatal		 AF, fetal tissues de novo AF: 47,XY,+mar[12]/
46,XY[28]
skin: mar in 4/40 - absent in kidney and pancreas		 inv dup(5)(pter→q10:
:q10→pter)		 subtel 5pter
pcp 5p		 no ultrasound abnormalities, AMA; in autopsy: long philtrum, up-slanting palpebral fissures and a broad nasal bridge {38}
05-
W-
iso/
1-9		 female/
prenatal		 CH, fetal tissues de novo CH short term: 47,XX,+mar[7]/
46,XX[5]
CH long term: 47,XX,+mar[20]
skin mar in 3/18 , kidney in 1/10, lungs in 4/14, umbilical cord tissue in 1/13		 inv dup(5)(pter→q10:
:q10→pter)		 subtel 5pter
pcp 5p		 see below {39}
increased nuchal translucency at 11 weeks’ gestation, suggesting cystic hygroma - also later congenital heart defect (pulmonary atresia with intact ventricular septum), TOP
05-
W-
iso/
1-10		 female/
prenatal		 AF/ CH de novo 47,XX,+mar[10]/
46,XX[5]
CH: mar in 6/21		 inv dup(5)(pter→q10:
:q10→pter)		 wcp 5; D5S23, cep 1/5/19 different ultrasound abnormalities, cystic hygroma, choroid plexus cysts; intrauterine fetal death at 28 weeks {40}
05-
W-
iso/
1-11		 n.a./
prenatal		 CH/ skin de novo 47,+mar inv dup(5)(pter→q10:
:q10→pter)		 n.a. different or no ultrasound abnormalities, TOP {41} case 2
05-
W-
iso/
1-12		 female/
prenatal		 CH/ fetal tissues de novo 47,XX,+mar[11]/
46,XX[6]
kidney in 3/20; gut in 6/20; skin in 5/20		 inv dup(5)(pter→q10:
:q10→pter)		 n.a. increased nuchal translucency, TOP {41} additional case
05-
W-
iso/
1-13 to
1-18		 3x female, 2x male/prenatal and/or postnatal CH/ AF/ PBL de novo cases 1, 3, 4, 5: mar only in CH
case 6: mar only in CH and 2% in AF
case 7: mar only in 2% in AF
in none of the cases in PBL		 inv dup(5)(pter→q10:
:q10→pter)		 n.a. normal at birth or as newborn or 4m to 4y {41; 68} cases 1, 3, 4, 5, 6, 7
05-
W-
iso/
1-19		 male/
35y		 PBL de novo 47,XY,+mar[8]/
46,XY[42]
mar not present in skin fibroblasts or urothelial cells		 inv dup(5)(pter→q10:
:q10→pter)		 subtel 5pter infertility {42; 55; 68}
05-
W-
iso/
1-20		 female/
5y		 PBL/ skin de novo 47,XX,+mar[11]/
46,XX[6]
'overall sSMC in 10% of skin fibroblasts - only hyperpig. area'
in blood no sSMC		 inv dup(5)(pter→q10:
:q10→pter)		 wcp 5, locus spec. probe see below
{43}
early development was uneventful and apparently normal, although she had been seen by a physiotherapist at the daycare centre for motor delay. At 5y psychomotor and intelligence testing showed values at the lower normal border broad facies, broad nasal tip and clinodactyly of the little finger, focal hyperpigmentation of skin
05-
W-
iso/
1-21		 n.a./
prenatal		 CH/ skin de novo CH: 47,+mar[7-20%]/
46[80-93%]
skin: in 13%		 inv dup(5)(pter→q10:
:q10→pter)		 probes n.a. see below {45}
AMA; TOP; fetus had some dysmorphic features hypertelorism, a wide nasal bridge, microgantia, small earlobes, a hypoplastic right upper lung lobe and a bicornate uterus.
05-
W-
iso/
1-22		 n.a./
prenatal		 CH/AF/ PBL/ urine de novo CH: 46[15]
AF: 47,+mar[4]/
46[37]
postnatal 5% in PBL and urine		 inv dup(5)(pter→q10:
:q10→pter)		 probes n.a. fetus with lat facial profile, at birth facial abnormalities; at 5y mental retardation, hydrocephaly, club foot {47} case 1
05-
W-
iso/
1-23		 female/
prenatal		 AF/ PBL/ skin with hyperpigmentation/ buccal mucosa de novo AF: 47,XX,+mar[1]/
46,XX[14]
see below		 inv dup(5)(pter→q10:
:q10→pter)		 probes n.a. amniocentesis due to isolated polyhydramnion; facial dysmorphism after birth; at 5y normal {47} case 2; {55; 68}
no sSMC in postnatal PBL; in skin with hyp.: 85% with mar; in normal skin: 13% with sSMC; in buccal muc: 70% with sSMC
05-
W-
iso/
1-24		 male/
prenatal		 AF/ PBL/ skin de novo AF and PBL at 2y: 46,XY
skin fibroblasts: 47,XY,+mar[7]/
46,XY[44]		 inv dup(5)(pter→q10:
:q10→pter)		 wcp5, aCGH i5p syndrome {48}
05-
W-
iso/
1-25		 male/
prenatal		 CVS/PBL/ skin de novo CVS: 47,XY,+mar[1]/46,XY[216]
PBL: 47,XY,+mar[3]/46,XY[28]
skin fibroblasts: 47,XY,+mar[12]/
46,XY[2]		 inv dup(5)(pter→q10:
:q10→pter)		 n.a. i5p syndrome {49}
05-
W-
iso/
1-26		 female/
5y
PBL/ skin		 de novo PBL: 46,XX
skin fibroblasts: 47,XX,+mar[?%]/
46,XX[?%]		 inv dup(5)(pter→q10:
:q10→pter)		 n.a. i5p syndrome {50}
05-
W-
iso/
1-27		 male/
prenatal		 CVS n.a. 47,XY,+mar[15]/
46,XY[7]		 inv dup(5)(pter→q10:
:q10→pter)		 subcenM i5p syndrome {0} provided from Greece
05-
W-
iso/
1-28		 female/
4y
 PBL n.a. 47,XX,+mar[8]/
46,XX[42]		 inv dup(5)(pter→q10:
:q10→pter)		 interphase-FISH with 5p15.2 and 5q31 probe
 i5p syndrome {64}
05-
W-
iso/
1-29		 female/
prenatal
 AF n.a. 47,XX,+mar[8]/
46,XX[12]		 inv dup(5)(pter→q11:
:q11→pter)		 n.a.
 i5p syndrome {65}
05-
W-
iso/
1-30 to 1-35
 male or female/
4y
 CVS
 n.a. 47,XN,+mar[7%-100%]/
46,XN[0-93%]		 inv dup(5)(pter→q10:
:q10→pter)		 n.a.
 i5p confined to placenta; normal babies born
 {66}
05-
W-
iso/
1-36		 male/
prenatal
 ?AF n.a. 47,XY,+mar[17]/
46,XY[33]		 inv dup(5)(pter→q11:
:q11→pter)		 n.a.
 i5p syndrome {70} case 2

Cases with clinical findings (W)

case no.
 gender/
age at diagnosis
studied
material
 de novo/
inherited
 GTG-banding result
grade of mosaicism
 final result of the sSMC
 test
methods
 clinical symptoms
 Reference
05-
W-
p15.33/
1-1		 n.a./
prenatal		 AF de novo 47,+mar[100%] min(5)(pter→q11.1:) M-FISH; pcp5 see below {0} provided from France
Amniocentesis due to AMA; ultrasound signs presented by the fetus are compatible with the trisomy 5p and included: dolichocephaly with prominent forehead and retrognathia, ventriculomegaly, club feet, femur length under 10the centile, intra-abdominal massvisible and attributed to renal cysts. TOP, but no autopsy.
05-
W-
p15.33/
1-2		 male/
prenatal		 AF de novo 47,XY,+mar mar(5?p)
wcp 5?		 ultrasound abnormalities {19} case 53
{43}
05-
W-
p15.33/
1-3		 female/
prenatal		 AF de novo 47,XX,+mar min(5)(pter→q10:) MCB 5 ultrasound abnormalities, TOP {27} case 1
05-
W-
p15.33/
1-4		 n.a./
prenatal		 AF de novo 47,+mar min(5)(pter→q10:) n.a. ultrasound abnormalities, TOP {34} 1 case
05-
W-
p15.33/
1-5		 female/
prenatal		 CVS/ PBL de novo CVS: 92,XXXX/ 46,XX
PBL: 47,XX,+mar[100%]		 min(5)(pter→q11.1:) wcp5 several dysmorphic features and a severe failure to thrive {61}
05-
W-
p15.3/
1-1		 female/
postnatal		 PBL de novo 47,XX,+mar[11]/
46,XX[11]		 min(5)(pter→q11.2:)
32.73-55.80 MB		 aCGH DD, MR {52} case 5
05-
W-
p14/
1-1		 female/
27y		 PBL n.a. 47,XX,+r[39]/
46,XX[29]		 r(5)(::p14→q11.2::)
16.58-56.31 MB
r(5)(::p15.1→q11.2::)
(sSMC is a derivative of a maternal chromosome 5)		 midi; FISH; aCGH; UPD test see below {0}
{5} case 1
Born after uncomplicated pregnancy; speech with 4y; mental DD; at age of 27 dysmorphic face (small face, epicanthic folds, high arched palate, hypertelorism, left strabismus, upward slanting palpebral fissures, synophris, prominent nose with wide nasal bridge, micrognathia, low set, posteriorly rotated, dysplastic ears, low frontal and posterior hairline); bilateral talipes valgus and genu valgum, Baker's cysts
05-
W-
p14.1/
1-1		 female/
10y		 PBL n.a. 47,XX,+r r(5)(::p14.1→q11.1::)
array-CGH 49.7-45.80 MB		 aCGH see below {44; 60}
born at term after uneventful pregnancy; at 10 years facial dysmorphism, moderate mental retardation; pointed chin, flat nasal bridge, left-deviated nasal septum, hypertelorism, mid-facial hypoplasia, blepharophimosis, prognatism, pectus excavatum and inverted nipples, hypoplasic maxilla and ossis nasi, hypoplastic cervical vertebrae I-II. Psychological survey showed slight developmental delay. diagnosed as Binder syndrome.
05-
W-
p14.1/
2-1		 female/
postnatal		 PBL n.a. 47,XX,+mar[36]/
46,XX[23]		 mar(5)(:p14.1→q11.1:)
array-CGH (hg19) 27.4-46.1 MB		 aCGH DD, MR {69}
05-
W-
p1?4/
1-1		 female/
3m		 PBL n.a. 46,XX,1qh+pat[70]/
47,XX,1qh+pat,+mar dn[30]		 ?r(5)(::p1?4→q11.1::)[3]/?min(5)(:p1?4→q11.1:)[1] cenM/ subcenM see below {0} povided from Croatia
twin pregnancy eneded by emergency cesarean section (asphyxia). At birth 2130g, 45 cm, APGAR 2/7. At 2 m dysmorphic, at 3m; hypertelorism, broad nasal root, microretrognatia, gothic palate, umbilical hernia, hypotonic.
05-
W-
p13/
1-1		 see McCl-05-W-p13/1-1
05-
W-
p13.3/
1-1
°°°
 female/
1w		 PBL de novo 47,XX,+r[31]/
46,XX,[9]		 r(5)(::p13.3→q10::) all wcp; different YACs see below {8} case 1
Birth weight 2050g (<3. centile), OFC 33.5cm (>50. centile); length 44cm (10. centile); APGAR 6/8/-; during pregnancy polyhydramnion and fetal distress; at birth hypotonia and talipes equinovarus; At 3.5m length still at 3. centile, macrocephaly, with OFC at 75. centile, narrow up slanting palpebral fissures, epicanthic folds, hypertelorism, flat nasal bridge, short nose, broad alveolar margins, simple eras, long hands and fingers, right transverse palmar crease, protuberant abdomen, narrow chest, developmental delay, at 9m seizures; dies at 3y, 3m due to respiratory failure
05-
W-
p13.3/
1-2 		male/
1w		 PBL de novo 47,XY,+r[25]/
46,XY[6]		 r(5)(::p13.3→q12.3::) all wcp; different YACs see below {8} case 2
Polyhydramnion during pregnancy, Birth weight at 75. centile, OFC >95. centile, length at 5o. centile; APGAR 6/7/-; macrocephaly, large anterior fontanel, upslanting palpebral fissures, wide nasal bridge, abnormal ears, preauricular pits, bilateral palmar crease, cardiac murmur, anterior anus, bilateral talipes equinovarus, hypotonia, VSD, hydrocephalus, bilateral inaugurine hernia, facial eczema at 9m, dolichomacrocephaly, weight and length later below 3. centile
***
05-
W-
p13.3/
1-3
°°°
 male/
5y		 PBL maternal
(mother with 20% sSMC)		 47,XY,+mar[50%]/
46,XY[50%]		 min(5)(:p13.3→q11.1:)
30.64-46.14MB
FISH-data: RP11-19F12 (41.24MB) on sSMC		 aCGH (Agilent 44000) see below {36} case P-2
MR, facial dysmorphism and aggressive behavior; brother with sSMC ion 90% of cells also with MR; mother also with MR.
05-
W-
p13.3/
2-1		 female/
~1m		 PBL de novo 47,XX,+mar[~70%]/
46,XX[~30%]		 min(5)(:p13.3~p13.2→q11.2:) M-FISH, subcenM, MCB see below {16}
Karyotyped initially because of ASD, VSD and odd facies; walked at 18 months of age; moderate learning difficulties but attends normal school; mother describes her as "slow" and "heavy" when she has tasks to perform; Weight was 55.6 kg (> 97th pc), length 148.2 cm (92nd pc), span 151.2 cm, OFC 57 cm (>97th pc) cm, and ears 6 cm (55th pc) at the age of 9 years and 8 months. Tanner was at state II; mild dolichocephaly, low set ears with preauricular pits, broad eyebrows, hypertelorism, down slanted palpebral fissures, heavy epicanthus, high nasal bridge, tongue with a vertical furrow, thick thorax with 85 cm circumference (>>97th centile), imd 18.3 cm (90th pc), 2 supernumerary nipples, tapering fingers, palms 9.6 cm (85th pc), middle finger 7.5 cm (>97th pc), thumb distally placed, foot length 24.2 cm (97th pc), and clino/camptodactyly of toes IV and V. She began to gain weight from ~ 7 years of age. Ophthalmological investigation and abdominal U/S were normal.
05-
W-
p13.3/
2-2
°°°
 male/
newborn		 PBL n.a. 47,XY,+r[15]/
46,XY[17]		 r(5)(p13.3→q11.2)
aCGH (hg19):
31,513,816–53,752,188		 aCGH see below {63}
At birth weight 1.786kg (90th centile) and length 43cm (90th centile). After delivery, noted to be dysmorphic and have right talipes equinovarus. At infancy, head imaging showed polymicrogyria. As an infant, low muscle tone global DD. During childhood, significant for dental caries, strabismus, myopia, kyphoscoliosis, and chronic diarrhea, autism spectrum disorder and ADHD. At 18y severe scoliosis and concerns for a connective tissue disorder. Heart murmur was heard and an echocardiogram revealed mild aortic root dilation with a sinus of Valsalva diameter of 3.60 cm (Z-score: + 2.3) and ascending aorta diameter of 3.38 cm (Z-score: + 2.8). Height 185cm (87th centile), weight 81kg (80th centile), arm span to height ratio of 1.0, bilateral pre-auricular pits, kyphoscoliosis, pectus excavatum, three vertical skin striae on the back, and dysmorphic head and face with head circumference of 61.5cm (>97th centile), dolichocephaly, a long and thin face, hypotelorism with an inner canthal distance of 2.9[nbsp]cm (<3rd centile), mild malar hypoplasia, esotropia, and dental crowding. He had a Beighton score of 0 out of 9 and a systemic score of 4 by the revised Ghent criteria based on the presence of positive bilateral wrist signs, pectus excavatum, kyphoscoliosis, and skin striae.
05-
W-
p13.2/
1-1
°°°
 male/
1m		 PBL
(EKF-
cellbank)		 de novo 47,XY,+mar[7]/
46,XY[3]		 r(5)(::p13.2→q11.1::)[9]/
r(5;5)(::p13.2→q11.1:
:p13.2→q11.1::)[1]		 M-FISH,
subcenM MCB		 see below {0}
minor dysmorphic signs (microgenia, thin upper lip, hypoplasia of the midface, upslanting palpebral fissures), inguinal hernia, hypotonia, no glaucoma; at 5y slight developmental delay; strabismus since 6 y; at 7y: ADHD; IQ75; obstusive behaviour; tendency to runaway; bulbous nose and "ears attached more backwards than normal"
05-
W-
p13.2/
2-1
°°°
 male/
prenatal		 AF/ PBL
(EKF-
cellbank)		 de novo 47,XY,+mar[AF 24; PBL 28]/
46,XY[AF 6; PBL 3]		 min(5)(:p13.2→q11.2:)
aCGH: break in p-arm at position 34,531,621-55,293,501
FISH-confirmed		 wcp, subcenM, BAC in 5p13.2
aCGH		 see below {51} case 3
{0}
AMA, normal sonography; polyhydramnios a week before the birth, after birth no major physical problems; problems with suckle; slightly unsual ears (a bit low set), shape of eyes, possible epicanthus and small eyes, slight squashed nose, also quite long fingers and toes. At 6 months developmental delay, still tube fed, not sitting yet, but smiled at 2 months and can roll over, touch his feet, and pull toys. Walking at 20 m. At 4 y diagnosis of mild autism and no speach, but knowing all letters and numbers and able to spell ~20 words on magnetic board.Dysmorhic signs became very mild at 4 y. Even though having mild autism he is smiley and affectionate person loving cuddles and being wizz in ipad.
05-
W-
p13.2/
2-2		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] mar(5)(:p13.2→q11.1:)
aCGH: 34.93-45.32		 aCGH AMA, TOP - no further information available {54} case 6
05-
W-
p13.2/
2-3
°°°
 female/
10m		 PBL n.a. 47,XX,+mar[100%] min(5)(:p13.2→q11.1:) cenM; subcenM see below {0} provided from Armenia
congenital heart disease (ventricular septal defect, secondary atrial septal defect, cardiac insufficiency) and convergent strabismus, horizontal nystagmus, micro-retrognathia
05-
W-
p13.2/
3-1
 female/
17y		 PBL n.a. 47,XX,+mar[7]/
46,XX[43]
 r(5)(:p13.2→q12.1:)
 cenM;
centromere-near BACs
 autism, DD, DYS, obesity,
{67}
05-
W-
p13.1/
1-1
°°°
 female/
prenatal		 AF/PBL de novo 47,XX,+mar[100%] mar(5)(:p13.1→q10:) midi see below {9}
Amniocentesis due to triplet gestation and advanced maternal age; other two triplets with normal karyotypes; IUGR from week 27 on; polyhydramnion (>95. centile); birth weight at 15. centile, length at 10. centile, OFC at 25. centile; other two triplets had normal values; postnatal treatment for presumed sepsis, apnea, hyperbilirubinemia, hypoglycemia, anemia; At 1m length and weight <5. centile, OFC at 30. centile, large anterior fontanel, umbilical hernia, skin with visible venous patterning; hypotonia, VSD; at 3 and 5m weight and length <3. centile; OFC at 90. centile; dolichocephalism, hypertelorism, epicanthal folds, upslanting palpebral fissures, short nose, arachnodactyly
05-
W-
p13.1/
2-1		 male/
1 month		 PBL de novo 47,XY,+mar[1]/
46,XY[44]		 mar(5)(:p13.1q11.2:) FISH DYS, axial hypotonia GGB03237M, 2318 provided by Teleton foundation, Italy
05-
W-
p12/
1-1
°°°
 n.a./
prenatal		 AF
PBL
fibroblasts		 de novo 47,+mar[46%]/46[54%]
47,+mar[62%]/46[38%]
47,+mar[50%]/46[50%]		 r(5)(::p12→q10::) midi see below {2} case G
Amniocentesis due to AMA. The parents elected to terminate the pregnancy in week 19. autopsy showed normal weight, length, and head circumference, but also an asymmetrical head and face, left ear smaller and set lower than the right ear; short and upturned nose, long, marked philtrum, small chin, neck short and broad, with a slight excess of nuchal skin. Except for a small VSD, no major malformations were found.
***

05-
W-
p12/
2-1
°°°

 female/
prenatal		 AF
PBL		 de novo 47,XX,+mar[11]/
46,XX[5]		 min(5)(:p12~13.1→q10:)[11]/
min(5)(:p12~13.1→q10:
:q10→p12~13.1:)[2]/
r(5)(:p12~13.1→q10:
:q10→p12~13.1:)[1]
aCGH: 30.28-45.87		 midi; subcenM; aCGH see below {13} case 5-6
{0}
AMA; child born with facial dysmorphism in week 34 (macrocephalus, long face, epicanthus, deep set big ears, short mouth), microgeny, rectus diastasis, small umbilical hernia, bilateral club feet and sandal gaps; VSD; ASDII; birth weight: 2650g, length 47cm, OFC 36.5cm; speech: 'mom' and 'dad' at 2y, at 3y 10 words only. Crawling with 16m, sitting with 13m; no hearing problems diagnosed; at age of 3y minor psychomotor developmental retardation, hypothyreosis; weight 15.5kg, length 92cm, OFC 53,6cm; adipositas, deep sitting, dysplastic ears, epicanthus, hypertelorism, hypotonia of facial muscles, sandal gaps; a age of 2.5 fever cramp - however, EEG normal at birth and at 3y.
05-
W-
p12/
3-1
°°°
 male/
postnatal		 PBL
cell line at ECACC DD0549		 de novo 47,XY,+mar[?%]/
47,XY,+mar[%?]/
46,XY[?%]		 inv dup(5)(:p12→q11.1:
:q11.1→p12:)[60%]
no other marker observed		 cenM; subcenM hypotonic, moderately retarded {15} case 5
05-
W-
p11/
1-1
°°°
 n.a./
1y		 PBL de novo 47,+mar[25%]/
46[75%]		 r(5)(::p11→q12.1::) n.a.; subcenM with 3 BACs; aCGH see below {20} case 9
Intrauterine growth retardation (IUGR) and small for gestational age (SGA); at 55 days of age in the neonatal intensive care unit (NICU): apnea, poor feeder, elevated triglycerides, normal head ultrasound, mild dysmorphic features; at 1 year of age: DD, mild DYS, atrial septal defect, hemangiomas.
***
05-
W-
p11/
1-2
°°°
 female/
4y		 PBL de novo 47,XX,+mar[14]/
46,XX[6]		 r(5)(::p11→q12.1::)
aCGH: 46.15-61.33 MB		 midi, subcenM
aCGH;
UPD-test		 see below {46}
Normal delivery, weight 2750g, Childhood: Hypotonic, psychomotor delay, first sentence at 4y, learning difficulties; slight facial dysmorphism - thin upper lip, slight hypertelorism; slight protrusion of the chin Chorioretinitis. Adulthood: Son with normal karyotype
05-
W-
p11/
1-3
 		female/
13y		 PBL
 n.a. 47,XX,+mar[100%] min(5)(:p11→q11.2:)
 cenM; subcenM dwarfism {0} provided from Germany
05-
W-
p11/
1-1
 female/
postnatal		 PBL n.a. 47,XY,+mar[100%] min(5)(:p11→q11.1:) cenM; subcenM abnormal phenotype {0} provided from  Belarus
05-
W-
p11/
1-2

 female/
14y		 PBL n.a. 47,XX,+mar[21]/
46,XX[44]		 min(5)(:p11→q11.1:) cenM; subcenM; aCGH (no imbalance found)
 see below
 {0} provided from Croatia
short stature, primary amenorrhea, rudimentary uterus, (both ovaries are present), epileptic seizures, hypocalcemia, osteoporosis, PTH and LH elevated, and estradiol decreased. Mental and behavioral development are normal (she is an excellent student).










W-Cases with similar imbalances NOT caused by sSMC (W-IMB)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
05-
W-
IMB-
p13/
1-1
°°°
 male/
2y 		PBL maternal
(balanced  inversion)		 46,XY,dup(5)(p13p11) n.a. macro-dolichocephaly, mentally retarded, multiple minor anomalies {31}
05-
W-
IMB-
p13.3/
1-1
n.a./
postnatal
PBL 		maternal
(balanced ) 		46,der(19)ins(19;5)(p11;p11p13.3) n.a. see below
{22}
similar to those described in patients with complete duplication of the short arm and in some patients with partial 5p duplications, affecting at least band 5p13
05-
W-
IMB-
p12/
1-1
°°°
 male/
18y
PBL 		de novo 46,XY,dup(5)(p12q11) subcenM height and head circumference under the 3rd percentile, severe MR {1} case II
05-
W-
IMB-
q11.2/
1-1
°°°
 male/
postnatal 		PBL paternal
(balanced ) 		46,XY,der(20)t(20;5)(q11.2;q11.2q13.1) n.a. feeding difficulties, gross motor delay, few minor abnormalities {25; 32; 33}

W-cases with unclear/insufficient characterization of the sSMC (CW)

case no.
 		gender/
age at diagnosis
studied
material
 		de novo/
inherited
 		GTG-banding result
grade of mosaicism
 		final result of the sSMC
 		test
methods
 		clinical symptoms
 		Reference
05-
CW-
1 		male/
8m? 		PBL de novo 47,XY,+r[24]/
46,XY[26] 		.ish r(5)(wcp5+;D5Z2+) different FISH probes: cep 1/5/19; wcp5 see below {4}
Born at 39 weeks of gestation; weight 2,540 g (-1.7 SD), length 47.6 cm (-1.1 SD), and OFC 32.8 cm (-0.5 SD); congenital stridor due to laryngomalacia, telecanthus, low nasal bridge, hypoplastic columella, preauricular tag, and high-arched palate. He sat alone at age 8 m and walked at 17 m. He twice had febrile convulsions. Computed tomography of the brain was normal as were fundi. At age 3 2/12y height 97.4 cm (+0.8 SD), weight 15.7 kg (+0.9 sm, and OFC 50.5 cm (+0.5 SD). He spoke no meaningful words.
05-
CW-
2 		n.a./
n.a. 		n.a. n.a. 47,+mar[?%] mar(5) FISH with ? DD {12} 1 case
05-
CW-
3 		male/
newborn 		PBL de novo 47,XY,+mar[23]/
46,XY[1] 		mar(5) M-FISH; cep 1/5/19 normal pregnancy and birth, failure to thrive, hoarse voice on crying, growth retarded, isolated cleft palate, {29} 1 case