ChromosOmics - Database

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                                                  -  CHROMOSOME #16 -                                                 
ABNORMAL
Specific PATIENTINFORMATION for sSMC(16) - part 1
Specific PATIENTINFORMATION for sSMC(16) - part 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
16-
W-
p11.2/
1-1		 see +21-U-37
16-
W-
p11.2/
2-1
°°°
 male/
6y		 PBL n.a. 47,XY,+mar[14]/
46,XY[15]		 min(16)(:p11.2→q11.2:) cenM, subcenM slight cognitive deficit {0} provided by Dr. C. Alves, Porto, Potugal
***
16-
W-
p11.2/
3-1
°°°
 female/
prenatal		 chord blood de novo 47,XX,+mar[25%]/
46,XX[75%]		 r(16)(::p11.2→q12.1::)
array: 31.65-46.16 MB		 cenM, subcenM, midi; aCGH see below {51} case 7
AMA with no ultrasound anomalies. TOP. Autopsy at 23 weeks of gestation revealed a female fetus with an extra supra-renal near the left ovary and slight facial alterations, like discrete hypertelorism, large philtrum and asymmetrical implantation of the ears.
16-
W-
p11.2/
3-2
 male/
prenatal		 AF de novo 47,XY,+mar[100%] r(16)(::p11.2→q12.1::) cenM, subcenM; UPD-test see below {0} provided by Dr. Borochowitz, Israel
AMA; sonography and fetal brain MRI (normal). At age of 31 w severe IUGR was noted, and the couple chose to have a TOP. Placental culture revealed 2 lines: 7 cells with mar, 6 cells with trisomy 16.
16-
W-
p11.2/
3-3
°°°
 male/
3y		 PBL
(EKF-
cellbank)
de novo		 47,XY,+mar[5]/ 46,XY[27%] r(16)(::p11.2→q12.1::)
aCGH: 29,875,000-35,005,000 MB		 cenM, subcenM; UPD-test
aCGH		 Ataxia when standing and walking, delay in speech development, developmental regression ~3 y {0} provided by Dr. Martin, Homburg, Germany
16-
W-
p11.1/
1-1
°°°
 male/
2y		 PBL de novo 47,XY,+mar[6%]/
46,XY[94%]		 min(16)(:p11.1→q11.1 or q11.1→p11.1:
:p11.1→q11.2:)
array: 32.56-45.44
FISH probe in p at 26.7MB		 midi, subcenM; aCGH normal at birth, progredient edema at hands at 9m; little asymmetry of skull, no DYS, slight penis anomaly {22} case 16-1
16-
W-
p11.1/
2-1
°°°
 male/
13y		 PBL de novo 47,XY,+r[7]/
46,XY[7]		 r(16)(::p11.1→q12::) midi, cenM, subcenM see below {44} case 23
{51} case 8
congenital malformations, born at term, birth weight 3200g, length 50cm; at 13 y: weight 47 kg, length 160,5cm, OFC=54cm, low-set dysplastic ears, hypoplastic testes OD, cryptorchidism
16-
W-
p11.1/
3-1		 see 16-U-29
16-
W-
p11.1/
4-1
°°°
 male/
4y		 PBL de novo 47,XY,+mar[16]/
46,XY[4]		 mar(16)(:p11.1→q12.2::)
array: 45.50-48.57 MB		 aCGH see below {58; 60}
IUGR at 31w gestation, delivery induced at 36 weeks, birth weight 1,730 g. poor sucking and general psychomotor delay. At age of 4y microcephally, high nasal bridge, deep set eyes, thin lips, mild retrognatia, low muscle tone, wide-based gait due to clumsiness or ataxia, used only 5 verbal words, MRI revealed cerebellar cortical dysplasia, large forth ventricle with mild elongated superior cerebellar peduncles and small vermis with atrophy of the inferior aspect were noted.
16-
W-
p11.1/
5-1		 female/
6y		 PBL n.a. 47,XX,+mar[73%]/
46,XX[27%]		 min(16)(:p11.1→q11.2:) cenM, subcenM MR {0} provided by Dr. Noa Ephron, Israel
16-
W-
p11.1/
6-1		 male/
7y		 PBL n.a.  46,XY[?%]/
47,XY,+mar[?%]		 min(16)(:p11.1→q12.1:)
arr[GRCh37] 16q12.1(41,785,918_48,574,867)
 cenM, subcenM abnormal phenotype
 {0} provided from Neu-Ulm, Germany
16-
W-
p10/
1-1		 see McCl-16-W-p10/1-1
-
 -
 -
 -
 -
 -
 -
 -
 -

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
16-
W-
IMB-
p12/
1-1
°°°
 male/
2y 		PBL de novo 46,XY,dup(16)(pter→p11.2:
:p12→qter) 		n.a. see below {36}
at 16 months tremor-like movements and occular revulsions lasting several seconds without loss of consciousness; microphtalmia, strabismus, hypertelorism. epicanthus, cleft palate, short neck, atopic body eczema, truncal hypotonia, moderate motor retardation, psychomotor delay, developmental delay, autism(?); epilepsy (?)
16-
W-
IMB-
p12.2/
1-1
°°°
 male/
25y 		PBL n.a. 46,XY,dup(16)(pter→p11.2:
:p12.2→qter) 		locus specific FISH-probes {34} see below {34} case 1
psychomotor delay since birth, episodes of seizures; at age of 3 years diagnosed as autistic, severely mentally retarded and epilepsy; at 25 y: weight and height ~3rd centile, OFC 25th centile.
16-
W-
IMB-
p12.2/
1-2
°°°
 female/
5y 		PBL mat 46,XX,dup(16)(pter→p11.2:
:p12.2→qter) 		locus specific FISH-probes {34} borderline cognitive impairment (IQ 80), behavioral problems; autism (?); mother similarly impaired in intelligence {34} case 2; {35}
16-
W-
IMB-
p12.1/
1-1 		male/
prenatal 		AF de novo 46,XY,dup(16)(pter→p11.2:
:p12.1→qter) 		locus specific FISH-probes {33} AMA; no sonographic abnormalities; mother described tremor like child movements; parents decided for TOP at week 24 of gestation; no autopsy was performed. {33}
16-
W-
IMB-
p12.1/
1-2
°°°
 male/
postnatal 		PBL maternal 46,XY,dup(16)(pter→p11.2:
:p12.1→qter) 		n.a. DD and learning difficulties in mother and patient {47}
16-
W-
IMB-
q11.2/
1-1
°°°
 male/
28y		 PBL de novo 46,XY,dup(16)(pter→q13:
:q11.2→qter) 		locus specific FISH-probes {28} severe growth and MR; short stature, ~3rd centile, self-destructive behavior, quadripleagia with bilateral pes cavus; he was hypotonic during first years of live and showed DD, no speech {28}
16-W-
IMB-
q11.2/
2-1
male/
newborn 		PBL de novo 46,XY,inv dup ins(16) (pter→q11.2::q12.2→q11.2:
:q11.2→q12.2::q11.2→q11.2:
:q12.2→qter) 		locus specific FISH-probes {38} see below {38} case 1
Born at term; birth weight 3.35 kg, length 51 cm and OFC of 34 cm; ascertained at 13 days of age with aortic isthmus stenosis. At 15 months, stature 81 cm within the normal range but both weight of 10 kg and OFC of 44.5 cm below the 25th centile. Motor developmental delay; unilateral inguinal hernia later operated on. At the age of 5: motor development retardation, mental and speech delay and his behavior was autistic; round face, strabismus, hypermetropia, normal fundus oculi, a long flat philtrum and normal dentition. stature again within the normal range but microcephaly, a mildly short neck, obesity and a hydrocele, mildly tapering fingers and mild plano-valgus positioning of his feet.
16-
W-
IMB-
q11.2/
3-1
°°°
 male and female/
adult 		PBL familial 46,inv dup ins(16)(q11.2q13q11.2) locus specific FISH-probes {38} different abnormalities as reported in {38} {38} family 1
16-
W-
IMB-
q11.2/
3-2
to 3-4
°°°
 similar as case above {39-42}
16-
W-
IMB-
q11.2/
4-1
to 4-7
°°°
 aCGH study; 7 cases with microduplication in 16q11.2; 3/7 maternally inherited, 1/7 paternally inherited.
in 3 cases autism, ADHD and language delay		 {39-42}
16-
W-
IMB-
q11.2/
5-1
 		female/
newborn		 PBL n.a. 46,XX,dup(16)(q11.1q21)
 		aCGH movement disorder, DD, neutropenia; death at 10m {74}
16-
W-
IMB-
q11.2/
6-1
 		female/
+4y
 PBL de novo 46,XX,dup(16)(q11.1q22)
 		FISH
aCGH
 		DD, speach delay, DYS,
review of 17 similar cases
 		{75}
16-
W-
IMB-
q11.1/
1-1
°°°
 female/
22y 		PBL n.a. 46,dup(16)(q11.1q12.2)
aCGH: 45.03-56.51 MB 		aCGH different abnormalities as reported in {59} {59}

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
16-
CW-
1		 male/
30y		 PBL
cell line at ECACC DD1135		 de novo 47,XY,+mar[100%] ish mar(16).(DZ16Z2+; D16Z3+, wcp16-) FISH with all available centromeric probes; wcp16, UPD-test mild mental handicap; psychosis; schizophrenia, normal appearance without abnormalities {2} case 15
{9} case 21
16-
CW-
2		 female/
prenatal		 AF de novo 47,XX,+mar[12]
(interphase in uncultured amniocytes: mar in 88%)
mar(16)		 FISH with all centromeric probes; wcp16 see below {20}
amniocentesis due to posterior fossa cyst with extension of the region of cerebellar vermis with splaying of cerebellar hemispheres suggesting Dandy-Walker complex in week 20 of gestation; termination of pregnancy in week 23; no autopsy, external examination showed normal female phenotype.
16-
CW-
3		 male/
postnatal		 PBL de novo 47,XY,+mar[50%]/
46,XY[50%]		 ish mar(16)(DZ16Z2+; D16Z3+, wcp16-) M-FISH see below {29}
patient born at term after normal pregnancy and delivery: 3150g, 51cm, OFC 35.5cm. facial dysmorphic; epicanthic folds, thin, distinct eyebrows, simian crease in both hands, short neck, perimembarnotic VSD and open foramen ovale, delayed development; up to 3y of age patient progressed at -2SD, weight +5% and OFC at -2.5 SD curve.
16-
CW-
4		 female/
2y		 PBL n.a. 47,XX,+mar[31]/
46,XX[21]		 mar(16)(:p1?1→q12:)
mlpa p181x3		 MLPA; cep 16 MR {0} provided by Dr. A. Delicado Navarro, Spain
16-
CW-
5		 female/
2y		 PBL n.a. 47,XX,+r[100%] r(16) SKY seizures {61} case F0616779