ChromosOmics - Database

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                                                  -  CHROMOSOME #13/21 -                                                 
ABNORMAL

Derivative 13 or 21;18 Syndrome (one more case with +21: see +21-13/21/18-1)


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
13/21-
der(18)-
1		 female/
prenatal		 CH de novo
47,XX,+mar[100%]		 der(13 or 21)t(13 or 21;18)(q11;p11.2) midi; cep 13/21 AMA; child normal in ultrasound at 23rd week; {22; 52}
13/21-
der(18)-
2		 female/
4y		 PBL maternal 47,XX,inv(9)pat,+mar[20] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1) SKY, cenM;
subcenM		 see below {52}
Child studied due to developmental delay; at 22y obese, psychomotorically slightly slow person, with normal height and borderline intelligence (IQ 89, clinically 70-80) normal puberty but irregular menstruation cycles, no remarkable dysmoprhic sings. She went to normal schools where she was a poor, but reliable student, education to a sewing technician. mother considered as normal and sSMC in her recognized after birth of her 1st child with Down syndrome with sSMC as well.
13/21-
der(18)-
3		 male/
13y		 PBL de novo 47,XY,+mar[40] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1) CGH; FISH with cep-probes and locus-specific probes see below {32; 52}
Born by vaginal delivery after a full-term uneventful pregnancy. Birth weight 3,700 g, height were 52 cm, APGAR score 10 at one and five minutes; neonatal period uneventful; Bilateral cryptorchidism was noted. At 6 weeks, operated for hypertrophic pyloric stenosis. Psychomotor development mildly delayed with walking at 20 months. At 6 years after a few months of going to school, lack of concentration, hyperactivity and lack of autonomy were reported. Hyperphagia was also reported. At 7 years, the boy underwent surgery for bilateral cryptorchidism. At age 13 years moderate mental retardation and is attending a school specialized for children with mild mental retardation. Growth regular on +SD from birth to the age of 7 years. Then, there was a progressive acceleration, and at 13 years, height was 172 cm (+3 SD). At 7 years, weight at the 90th centile, and at age of 13 years, weight was 70 kg (>97th centile). Pubertal development was P1A0. Mild facial dysmorphic features were noted: thin and flat midface with receding forehead, thick arched eyebrows, hypotelorism, upslanted palpebral fissures without epicanthus, normally implanted but malformed ears, thin nose and lips.
13/21-
der(18)-
4		 female/
postnatal; newborn		 PBL maternal 47,XX,+mar[100%] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1)
array, chr. 18: 0.00-17.17		 FISH with cep-probes and locus-specific probes, subcenM, midi;
aCGH		 see below {0}
{36; 52}
{41} case 16
fetal movements appeared during the fifth gestational month; abdominal ultrasound of the 5th month showed an artrial septal defect (ASD) and a right club foot. birth at 42 weeks of gestation by normal vaginal delivery. weight 2,760 g (3<p<25), length 49 cm (25<p<50) an occipito-frontal circumference (OFC) of 33 cm (p25). The prenatally observed findings were confirmed, and the infant had no other congenital defect. The parents are phenotypically normal, even though the mother seems to have a border line IQ. At present the child is two years old, and his development is normal without any delay.
13/21-
der(18)-
5		 female/
postnatal		 PBL de novo 47,XY,+mar[20] der(acro)t(acro;18)(q11;p11.21)
array, chr. 18: 0.00-14.22		 aCGH global DD, MR, upslanting palpebral fissures; besides patient has a 14kb del in 11p25.5 mat {47} case 6; {52}
13/21-
der(18)-
6		 male/
prenatal
PBL		 maternal 47,XY,+mar[100%] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1)
array, chr. 18: 0.00-17.17		 FISH with cep-probes and locus-specific probes, subcenM, midi;
aCGH		 mother normal, child nonetheless terminated {49; 52}
13/21-
der(18)-
7		 female/
17y
PBL		 de novo 47,XX,+mar[20] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1)
array, chr. 18: whole short arm		 FISH; aCGH nonsyndromic moderate intellectual disability and healthy nonconsanguineous parents {51} case 1; {52}
13/21-
der(18)-
8
 male/
prenatal		 AF de novo 47,XY,+mar[20] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1)
array, chr. 18: whole short arm;
? 14.9 Mb		 FISH; aCGH nonsyndromic moderate intellectual disability and healthy nonconsanguineous parents {51} case 2; {52}
13/21-
der(18)-
9
 male/
5y		 PBL de novo 47,XY,+mar der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1)
array, chr. 18: whole short arm;
? 14.9 Mb		 FISH; aCGH nonsyndromic moderate intellectual disability and healthy nonconsanguineous parents {59}

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
13/21-
W-
q10/
1-1 		n.a./
postnatal 		PBL n.a. n.a. inv dup(13 or 21)(q10) acro M DYS; MR {9} case 1
13/21-
W-
q10/
1-2 		n.a./
postnatal 		PBL n.a. n.a. inv dup(13 or 21)(q10) acro M DYS {9} case 5
13/21-
W-
q10/
1-3 		male/
15y 		PBL n.a. 47,XY,+mar[100%?] inv dup(13 or 21)(q10) acro-cenM iIntellectually impaired, DD {0} provided by Jason Anderson,
Brisbane, Australia
13/21-
W-
q10/
1-4 		female/
2m 		PBL n.a. 47,XX,+mar[100%] inv dup(13 or 21)(q10) acro-cenM DYS {0} provided by Dr. Wafa, Tunesia
13/21-
W-
q10/
1-5 		female/
13y 		PBL de novo 47,XX,+mar[100%] inv dup(13 or 21)(q10) ceps dwarphism and borderline IQ {0} provided from Spain
13/21-
W-
q10/
1-6 		male/
7y 		PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) ceps fam. dwarphism, MR, DD {0} provided by Dr. Pander, Stuttgart, Germany
13/21-
W-
q10/
1-7 		female/
12y 		PBL n.a. 47,XX,+mar[10]/
46,XX[70] 		inv dup(13 or 21)(q10) ceps DD, MR, polydaktyly {0} provided from Dresden, Germany
13/21-
W-
q11/
1-1 		male/
9m 		PBL de novo 47,XY,+mar [25] inv dup(13 or 21)(q11) cenM;
subcenM;
M-FISH 		at age of 4 years: dwarfism; muscular dystrophy; LADD-syndrome {0} provided by Dr. J. Seidel, Jena, Germany
13/21-
W-
q11/
1-2 		male/
prenatal 		AF/PBL de novo 47,XY,+mar[46%]/
46,XY[54%] 		inv dup(13 or 21)(q11) all available centromeric probes Amniocentesis due to gamete interfalliopian transfer; developmentally normal with brachycephaly, reverse epicanthic folds and thin upper lip at age of 6m {14; 15} case 10
13/21-
W-
q11/
1-3
male/
39y 		PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q11) cenM;
subcenM 		MR {0} provided by Dr. Lukretija Brecevic, Zagreb, Croatia

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 result of sSMC and
grade of mosaicism
 test
methods
 clinical symptoms
 Reference
13/21-
W-
IMB-
q/
1-1 		-
 -
 -
 -
 -
 -
 -

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
13/21-
CW-
1 		male/
41y 		PBL
cell line at ECACC DD0876		 de novo 47,XY,+mar[10%]/
46,XY[90%] 		inv dup(13 or 21) n.a.; UPD-test mild MR; mildly dysmorphic like rounded face, short stubby fingers, slightly lax joints {2} case 22
{20} case 5
13/21-
CW-
2 		male/
prenatal 		AF de novo 47,XY,+mar[50%]/
46,XY[50%] 		mar(13 or 21) all available centromeric probes pregnancy terminated; fetus with VSD, spina bifida occulta, bilateral cataracts {8} case 3
13/21-
CW-
3 		male/
10y 		PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21) different FISH-probes:
all centromeric probes 		overweight and gynecoid body habitus, small genitalia {7} case 2
13/21-
CW-
4
male/
4y 		PBL maternal 47,XY,+mar[100%] inv dup(13 or 21) FISH with all available centromeric probes see below {20} case 4
marked developmental and speech delay at 4y; mother had mar in 44% of PBL and needed special schooling in reading and writing; maternal grandmother had mar in 1% of PBL
13/21-
CW-
5 		male/
postnatal 		PBL de novo 47,XY,+mar[94%]/
46,XY[6%] 		min (13 or 21)* FISH with centromeric probes for acrocentric epicanthal fold, moderately retarded partial seizures {25} case 5

Further CW-cases without extensive details on the cases (Cww)

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
13/21-
Cww-
1		  MR - no details on mar {21} 1 case
13/21-
Cww-
2
 abnormal phenotype; 1 inv dup {43} 1 case
-
 -
 -
 -
 -
 -
 -
 -
 -