ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #17 -                                                 
ABNORMAL
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
17-
W-
p13.3/
1-1		 see 17-Uc-1
17-
W-
p13.3/
2-1		 female/
20m		 PBL de novo 47,XX,+min(17)
(pter→q11:)[60%]
/ 46,XX[40%]		 n.a. n.a. see below {17}
pregnancy and birth uneventful; At 20m psychomotor retardation; frontal bossing; antimongoloid slant of eyes, small nose with wide nasal bridge, hypertelorism, narrow palpebral fissures, low-set ears, mild clinodactyly of right 5th digit; hypotonia
17-
W-
p13.3/
3-1		 n.a./
prenatal		 fetus n.a. 47,XX,+mar[100%] dic(17)(pter→q11.1:
:q11.1→pter)		 aCGH early abortion {68}
17-
W-
p12/
1-1
°°°
 female/
2y		 PBL de novo 47,XX,+mar[70%]/
46,XX[30%] at age of
2y - at age of 8.5y mar present in only 50%		 min(17)(:p12→q11.1:)* CGH;
wcp17; D17Z1; Smith-Magenis- probe in 17p12		 see below {4}
pregnancy and delivery normal, antipodes anus in newborn period, suffered from severe constipation till age of 18 months; hypotonia and psychomotor delay from age of 9 months on; at age of 8.5y 125cm tall, 27.4kg and OFC of 52cm; squared face, somewhat bitemporal diameter with dolichocephaly shape of the skull, mildly down slating palpebral fissures, high arched palate; mild to moderately mental retarded.
17-
W-
p12/
1-2
°°°
 male/
2.5y		 PBL de novo 47,XY,+mar[51]/
46,XY[9]		 min(17)(:p12→q11.1:) locus-specific FISH-probes as specified in {12} plus micro satellite markers; UPD-test see below {12; 14}
Born in gestational week 41 by caesarean section; weight: 3350g, APGAR 3/6/8; developmental delay; significant feeding difficulties, oval face, large nose, prominent ears; moderate hypotonia
17-
W-
p12/
2-1
°°°
 female/
2y		 PBL de novo 47,XX,+r[6]/
46,XX[39]		 r(17)(::p12→q11::) different FISH-probes:
cep; wcp, SMS-probe in 17p11.2; MDS-probe in 17p13.3		 see below {34} case 17
Uneventful pregnancy; born at term by Caesarian section; Birth weight 3.6 kg. During neonatal period feeding difficulties and bilateral dislocation of the hips was noted. Concern first arose because of mild delay in acquisition of verbal skills at around 2y. At 3y limited vocabulary of 20-30 words; motor and skills also showed mild delay; head circumference and length fell on the 2nd and 50th centile, respectively.; bad folded helices, deep-set eyes, thin upper lip, ful1 lower lip, macroglossia macrostomia, maxillary hypoplasia, bilateral single transverse palmar creases, discrepancy in hand size, long narrow feet, generalized joint laxity, scoliosis abnormality.
17-
W-
p12/
2-2
°°°
 n.a./
prenatal		 PBL de novo 47,+mar[60%]/
46[40%]		 r(17)(::p12→q11::)* n.a.; subcenM 3 BACs Clubbed feet on ultrasound; increased risk for Down syndrome on serum screen. No follow-up data available {9}
17-
W-
p12/
3-1		 -
 -
 -
 -
 -
 -
 -
 -
17-
W-
p12/
3-2
°°°
 female/
prenatal		 AF and PBL de novo 47,XX,
+mar[27-41%]/
46,XX[73-59%]		 r(17)(::p12→q11::)* CGH; all cep, M-FISH - LSI SMS (latter not on mar) postnatal DD, speech delay, left Totrocolis, left 3rd digit laxity, poor eye contact {47} case 4
17-
W-
p12/
3-3		 male/
prenatal		 CH de novo 47,XY,+r[75%]/
46,XY[25%]		 r(17)(::p12→q12::)
array: 11.18-30.66 MB		 different FISH probes: cep17; wcp 17; aCGH normal at birth; slightly retarded at age of 2y {0}
{8} case 11
17-
W-
p12/
4-1		 female/
4y		 PBL de novo 47,XX,+mar[5]/
46,XX[50] 		min(17)(:p1?2→q1?2:) cenM, subcenM growth and DD heart defect, unilateral hypoplasia of the iris; feeding problems, no speech, only assisted walking {0} provided by Jelena Ruml, Belgrade, Serbia
***
17-
W-
p11.2/
1-1
°°°
 female/
prenatal		 AF/
PBL		 de novo 47,XX,+mar[72]/
46,XX[28] (in PBL)		 min(17)(:p11.2→q11.1:)*
17.75 MB - centromeric region		 CGH;
locus-specific probes; aCGH		 mild DD; small iVSD; abnormal EEG; at 4y height 97th centile, weight 50th centile and OFC 97th centile; some minor DYSin the face and long fingers {21} case 1934
17-
W-
p11.2/
1-2
°°°
 male/
5y		 PBL n.a. 47,XY,+mar[20] min(17)(:p11.2→q11.1:)*
20.07 MB - centromeric region		 SKY; locus-specific probes, aCGH see below {21} case 2170
at birth OFC at 10th centile and weight ~30th centile; postnatal weight ~5th centile; delayed speech and language development; at 5y dwarphism, clinodactyly of 5th finger, joint laxity and mild hypotonia
17-
W-
p11.2/
2-1
°°°
 female/
7y		 PBL de novo 47,XX,+mar[48]/
46,XX[2]		 min(17)(:p11.2→q10:)* PMP22-; SMS+ n.a.;
locus-specific probes		 MR, DD, language impairment, sleep disturbances, mild hypotonia during childhood; seizures since age of 4y; no significant behavioral abnormalities or DYS {22; 26}
17-
W-
p11.2/
2-2		 female/
n.a.		 PBL de novo 47,XX,+mar[8]/
46,XX[12]		 min(17)(:p11.2→q11.1:)* SMS+ n.a.;
locus-specific probes		 abnormal {56}
17-
W-
p11.2/
2-3
°°°
female/
4y		 PBL n.a. 47,XX,+mar[60%]/
46,XX[40%]		 min(17)(:p11.2→q11.1:)
aCGH: 8.5 MB gain		 aCGH DD, language impairment, symptomatic epilepsy, behavioral problems, congenital corneal opacity of the right eye, and dysmorphic features mimic PLS facial appearance {66}
17-
W-
p11.2/
3-1		 male/
7y		 PBL n.a. 47,XY,+mar1[2]/
47,XY,+mar2[1]/
46,XY[22]		 r(17)
(::p11.2→q11.2::)[1]/
min(17)(:p11.2→q11.2:)[1]/
min(17)(:p11.2→q11.1:)[2]		 cenM,
subcenM		 small stature, requested for 22q11 testing. {0} provided by Dr. J. Vermeesch,
Leuven, Belgium
17-
W-
p11.2/
3-2		 female/
6y		 PBL de novo 47,XX,+mar[15]/
46,XX[5]		 r(17)
(::p11.2→q11.2::)
aCGH: 20.95-23.98
also dup2p23.3p22.3 mat		 different FISH-probes, aCGH global DD, tall stature and large size {54} case 9
17-
W-
p11.2/
3-3
°°°
 male/
22y		 PBL n.a. 47,XY,+mar[82%]/
46,XY[18%]		 r(17)
(::p11.2→q11.2::)
aCGH: 21.20-27.80		 aCGH
cep 17		 Tourette syndrome; ADHD and intellectual disability {64; 65}
17-
W-
p11.2/
3-4
°°°
 male/
4y		 PBL de novo 47,XY,+mar[21]/
46,XY[5]		 mar(17)(:p11.2→q11.2:)
aCGH [hg19]: 21.71-28.61 		aCGH speach delay (10 single words at 4y), lack of social competence, impulsive, agressive; motor mile stones normal {0} provided by Dr. Kamphausen, Magdeburg, Germany
17-
W-
p11.1/
1-1		 male/
20m
 PBL de novo 47,XY,+r[8]/
46,XY[12]		 r(17)(::p11.1→q21::) different alpha satellite probes; midi see below {19}
patient born 3w prematurely after normal pregnancy; birth weight 2400g; developmental delay; never developing speech; severe respiratory allergies, asthma, croup, ear infections; scoliosis; calcaneovalgus deformity of feet, bilateral cataracts at 22y, hypoplastic optic nerves, dematerialized bone structure; at 38y profound mental retardation - IQ 20; OFC at 10. centile; height and weight [lt]5. centile; abnormal ears; heart murmur; severe kyphoscoliosis; hypotonia.
***
17-
W-
p11.1/
2-1
°°°
 male/
newborn		 PBL n.a. 47,XY,+mar[13]/
46,XY[17]		 min(17)(:p11.1→q11.2:)
aCGH: 23,086,100-32,754,790 MB		 cenM; subcenM;
aCGH		 DD {0} provided by Jasen Anderson, Brisbane, Australia
17-
W-
p11.1/
2-2		 see 17-Ud-2
17-
W-
p11.1/
3-1
°°°
 male/
postnatal?		 PBL? n.a.
47,XY,+mar[93%]/
46,XY[7%]		 mar(17)(:p11.1→q11.2:) aCGH abnormal {49} case 30218
17-
W-
p11.1/
4-1
°°°
 male/
2y		 PBL; buccal mucosa de novo 47,XY,+mar[35]/
46,XY[52]
in buccal muccosa: sSMC in 32%		 min(17)(:p11.1→q11.2:)
aCGH: size ~10MB		 FISH, ceps and RAI1
aCGH		 short stature, minor facial DYS and DD (especially speech delay); Potocki-Lupski syndrome {51} case 1
***
17-
W-
p11.1/
4-2
°°°
 female/
3y		 PBL de novo 47,XX,+mar[100%] min(17)(:p11.1→q11.2:)
aCGH: break in q at 27.72MB (hg19)		 FISH, aCGH DD, facial abnormalities, gastroesophagial reflux, polycystic ovary, supernumerary nippel, hypotonia {60}
17-
W-
p11.1/
4-3
°°°
 female/
4y		 PBL de novo 47,XX,+mar[100%] min(17)(:p11.1→q11.2:)
aCGH: break in q at
27.71 Mb (hg19)		 FISH, aCGH see below {69}
born after 36 wog: weight 2600g (10th-25th percentile), length 47cm (25th-50th percentile), OFC 32cm (25th-50th percentile). At 2 months gastroesophageal reflux. Walking at 18 months; first words at 3 years. Craniofacial features: round face, microstomia, small chin and down-slanting palpebral fissures, small lobules of both ears, myopia and anisometropi, mild general hypotonia with hypoplasia of orbicular oris muscle and levatorangulioris muscle, supernumerary nipple on the left side, proximal placement of the thumbs and polycystic ovary, small hypopigmented skin lesion on right thigh.. Speech skills delayed for at least 1.5 years. Poor social interactions and severe hyperactivity. Once a year she is re-evaluated by the clinical geneticist. Her developmental abilities are constantly improving but are still delayed for her biological age. At the age of 4 she uses limited number of words in few-word sentences and understands simple commands. Her speech is sometimes still unclear and problems with hyperactivity persist. At 4.2 years developmental quotient to be 0.68, representing significant DD
17-
W-
p11.1/
5-1
°°°
 male/
prenatal		 AF/ PBL de novo AF:
47,XY,+mar[12]/
46,XY[15]
PBL:
47,XY,+mar[27]/
46,XY[13]		 min(17)(:p11.1→q11.2:)
aCGH: break in q 27.73MB (hg19)		 aCGH VSD, DD and speech delay {67}

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
17-
W-
IMB-
p12/
1-1
male/
prenatal 		AF; PBL de novo 46,XY,der(21)t(17;21)(p12;p11.1) SKY see below {30}
large cystic hygroma in 15 week of gestation; directly postnatal: aortic coarctation, left equinovarus deformity, bilateral dilated urethra, deep-set ears, prominent nasal tip, smooth philtrum, single transverse crease on right hand, redundant neck skin folds, length 25th centile, weight normal, OFC 75th centile. At 7months: weight <5th centile, length 5th centile, OFC 10th centile
17-
W-
IMB-
p12/
2-1 to
2.2 		2 cases with partial trisomy 17p12→p11.2 are summarized in Ref {32-33} {32; 33}
17-
W-
IMB-
p11.2/
1-1
°°°
 female/
5y 		PBL de novo 46,XY,dup(17)(p11.2q11) n.a. see below
{37}
normal pregnancy, at birth weighing 3.035 kg, length 51 cm, head circumference 34 cm. cord wrapped tightly around neck causing cyanosis but was resuscitated easily ->APGAR score 8 at 2 min. At 3 months feeding difficulties and failure to thrive. Narrow palpebral fissures, antimongoloid slant to the eyes, large down-turned mouth, high arched palate and micrognathia, somewhat pointed ears, and muscular hypotonicity. At 2.5 years prolonged left-sided convulsion associated with a febrile illness. Delayed neurological development was noted at 9 months and subsequent development was retarded in all spheres. She walked at 3.5 years, and at 4 years verbal comprehension level was 1 05 years and her expressive language level was 1 04 years.
17-
W-
IMB-
p11.2/
2-1 		male/
1.5y 		PBL de novo 46,XY,dup(17)(p11.2p11.2) locus specific probes Alport syndrome {36}
17-
W-
IMB-
p11.2/
2-2 		male/
3y 		PBL de novo 46,XY,ins(5;17)(p13.1;p12p11.2) midi multiple anomalies {70}
17-
W-
IMB-
p11.2/
2-many 		46,dup(17)(p11.2p11.2) - can also be Charcot Marie Tooth disease {38} and Potocki-Lupski syndrome {39} see also {45} {38; 39; 42, 45}
17-
W-
IMB-
q11.1/
1-1
°°°
 male/
5y 		PBL de novo 46,XY,dup(17)(q11.1q12)
aCGH: 22.66-35.06 MB 		aCGH psychomotor delay and minor abnormalities {53}

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
17-
CW-
1
female/
n.a. 		PBL de novo 47,XX,+mar[94]/
46,XX[6] 		min(17) different FISH-probes:
centromeric probe p17H8 		see below {5}
Delivery occurred after 32 weeks of gestation by cesarean section due to premature rupture of membranes. Birth weight 1,640 g; club feet, low birth weight, but no perinatal complications. Sitting without support at 10 m; walking at 13 m; speech was delayed and learning disabilities → school for handicapped children. Visual impairment due to myopia. At age 15 years, she presented with short stature (145 cm; [lt]3rd centile), probably associated with hGH deficiency, and obesity (64 kg; 90th centile); short, broad neck, cubitus and[nbsp] gena valga bilaterally; hands and feet small; clinodactyly of the 5th digits and slight radial deviation of both bands; hallucesbroad and short; gaps present between 1st and 2nd, and 2nd and 3rd toes; nails of the 5th toes were hypoplastic; skin thick and hyper pigmented in the cervical, axillary and inguinal areas. Face and body hypertrichosis; Sexual development normal.
17-
CW-
2 		see 17-W-p12/3-3
17-
CW-
3
 		female/
4y 		PBL de novo 48,XX,+marx2[40%]/
47,XX,+mar[40%]/
46,XX[12%] 		min(17) midi growth retardation, delayed speech development; muscle weakness {15} case C
17-
CW-
4
 		n.a./
n.a. 		n.a. n.a. 47,+mar[?%] mar(17) FISH with ? developmental abnormal {24} 1 case