ChromosOmics - Database

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                                                  -  CHROMOSOME #19 -                                                 
ABNORMAL
Cases with clinical findings (W)

N.B. paper below is cited in {45} as sSMC(19) case but has indeed a karyotype 46,XX,r(19)!!
Flejter WL, Finlinson D, Root S, Nguyen W, Brothman AR, Viskochil D. Familial ring (19) chromosome mosaicism: case report and review. Am J Med Genet. 1996 Dec 18;66(3):276-80.


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
19-
W-
pter/
1-1		 male/
3 m		 PBL de novo 47,XY,+mar[52]/
46,XY[48]		 min(19)(pter→p11:)* all centromeric probes; different YAC-probes see below {24; 29}
normal directly after birth, ( 3550g, 51cm, OFC 36cm, Apgar 9/10); gastrooesophagial reflux at 24 days; sonography of brain normal; at 3 m generalized muscular hypotonia; at 7.5-9y: severe[nbsp] muscular hypotonia, severe mental retardation, developmental delay, dysmorphic features, strabismus, low set ears, clinodactyly, seizures, epilepsy, no walking
19-
W-
pter/
1-2		 male/
12y
 PBL de novo 47,XY,+mar[75]/
46,XY[25]		 mar(19)(pter→q11:)* all centromeric probes; wcp 19, pcp 19p similar to case 19-W-pter/1-1 {29 - case 2}
19-
W-
p13.2/
1-1
°°°
 male/
4y		 PBL n.a. 47,XY,+mar[12]/
46,XY[12]		 min(19)(:p13.2→q11:) midi DYS, MR, speech development delay {0} provided from Germany
19-
W-
p13.2/
2-1
°°°
 female/
6y		 PBL mat
(3/58 cells)		 47,XX,+mar[2]/
46,XX[20]		 min(19)(:p13.2→q13.2:) midi DD, MR, DYS; mother normal {0} provided from Germany
19-
W-
p13.2/
2-2
°°°
 male/
2y		 PBL n.a. 47,XY,+mar[13]/
46,XY[17]		 r(19)(::p13.2→q13.2::)
aCGH (hg19): 9,672,173-41,345,130		 aCGH
subcenM		 DD, muscular hybotonia {0} provided from Germany
19-
W-
p13.2/
3-1		 male/
3y		 PBL de novo 47,XY,+mar[55]/
46,XY[45]		 der(19)(:p13.2→q12:
:q12→p13.2:)
aCGH (hg19): 13.09-30.42Mb		 aCGH DD, language delay, hypotonia, short stature. weight 3°- 10°p; preaxial polydactyly, clubfeet, patent ductus arteriosus {58} case 2
19-
W-
p13.2/
4-1
 female/
4y		 PBL de novo 47,XX,+mar[19%]/
46,XX[81%]		 der(19)(:p13.2→q12:
:q12→p13.2:)
aCGH (hg19): 11.92-24.38Mb		 aCGH see below {58} case 5
IUGR; at 10m nephrolithiasis and other urinary tract problems; at 2.5 y DD; growth retard., microcephaly, DYS, like hypertelorism, syndactyly, stereotypical movements, caries and granulomas of deciduous teeth.
19-
W-
p13.2/
5-1
°°°
 male/
2y		 PBL n.a. 47,XY,+mar[9]/
46,XY[21]		 mar(19)(:p13.2→q12:)
aCGH (hg19): 16.636-31.625Mb		 aCGH; wcp 19 severe global DD; mild DYS incl. macrocornea and hypertelorism, dwarphism, musc. hypotonia {0} provided from Germany
19-
W-
p13.1/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[38]/
46,XX[17]		 r(19)(::p13.11→
q13.11~13.12::)[16]/
r(19;19)(::p13.11→
q13.11~13.12:
:p13.11→q13.11~
13.12::)[2]/
min(19)(:p13.11→q13.11~
13.12:)[5]		 cenM;
subcenM		 see below {17} case 19-4
AMA,  no ultrasound abnormalities apart from growth retardation (1 week delayed) and the nasal bone was not visible; pregnancy ended with spontaneous abortion - no heart activity in gestational week 14+4
19-
W-
p13.1/
1-2		 female/
newborn		 PBL; skin fibroblasts de novo 47,XX,+mar[5]/
46,XX[15]		 r(19)(::p13.1→q13.1::) midi, wcp 19, cep 1/5/19 see below {38} case 1
Born after normal pregnancy; intractable seizures on the first day of life. Also acquired microcephaly, severe developmental delay, a seizure disorder, and marked visual impairment. At 3y acquired microcephaly; head circumference 44 cm (<3rd centile), height 89 cm (10%), weight 13.1 kg (25%). No dysmorphic features, no organomegaly, with normal skin and extremities. Neurological examination: profound cognitive and gross motor impairment; no persistent primitive reflexes an overall developmental age of less than 4 months; normal routine blood work and cerebrospinal fluid analysis; ophthalmologic exam: optic atrophy, poor vision, and optical oscillation. Somatosensory evoked potential, brainstem auditory evoked potential, and peripheral nerve conduction were normal. Head MRI showed diffuse hyperintensity on T2-weighed images early on but there was interval maturation of myelination with only mild delay in myelination at age 3 years. There was under-operculation with simplification of the gyri in the frontal lobe, and thin corpus callosum suggesting cerebral dysgenesis. Bone films of spine showed thoraco-lumbar scoliosis.
19-
W-
p13.1/
2-1		 see 19-Ud-1
19-
W-
p13.1/
3-1
°°°
 male/
5 year		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[19]/
46,XY[11]		 min(19)(:p13.11~13.12→q12:) cenM;
subcenM		 DD {0} provided from Germany
19-
W-
p13.12/
1-1
°°°
 male/
33y		 PBL de novo 47,XY,+mar[18]/
46,XY[7]		 min(19)(:p13.12→q11:)
aCGH: 15.99-24.34Mb		 aCGH
FISH		 see below {56}
small at birth (w: 2550kg; l: 46cm; OFC: 32cm); mild motor delay and moderate learning difficulties; At 33y height: 152cm; normal BMI; OFC 55cm; diagnosed social communicating disorder
19-
W-
p13.12/
2-1
°°°
 female/
1y		 PBL n.a. 47,XX,+mar[100%] min(19)(:p13.12→q12:)
1Mb set: in 19p break [hg18]: between 14,586,245 - 15,264,051		 cenM;
subcenM;
1 Mb set		 epicanthus, plagiocephaly, hypertelorism, ptosis of left eye, bulbous nose, no DD at 1 y {0} provided from Armenia
19-
W-
p13.11/
1-1
male/
penatal
 AF de novo
 47,XY,+mar[7]/
46,XY[15]
 mar(19)(:p13.11→q11.1:)
arr[GRCh37] 19p13.11p12(16,897,821_
24,340,741)x2~3		 aCGH abnormal sonography {0} provided from Germany
19-
W-
p12/
1-1		 male/
1 w		 PBL de novo 48,XY,+marx2[100%] min(19)(:p12→q12:)x2 cenM;
subcenM		 see below {27} case 30
full term pregnancy (G4,P2; G2 miscarriage, G3, legal abortion) at birth weight 2800g, lenght 49cm, OFC 34cm; (OFC at 11m 43cm) facial dysmorphism, hypertelorism, low set dysmorphic ears, preauricular fistula, high palate, flat wide root of the short nose; flat round face, narrow palpebral fissures, microretrognathia, long philtrum, open mouth, high line of hair, spars hair spare eyebrows, horizontal fissures, epicanthus, systolic murmur, heart defect, severe muscular hypotonia, decreased reflexes, short neck, mild lymphoedema at hand and feet, pes planus, ventriculomegalia, severe developmental delay, small scrotum, cryptorchidism
19-
W-
p12/
2-1		 male/
3 m		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[60-90%]/
46,XY[40-10%]		 min(19)(:p12→q12:)
size in p 2.59MB (= position 25.91 MB) , in q 2.3 MB (= position 32.4MB)		 MCB;
subcenM
midi, aCGH (Agilent 244k-chip)		 see below {0} provided from Germany
{26}
born in week 31 spontaneously, weight 2060g (93centile), length 42,5cm (58 centile), OFC 31.5 cm (92 centile) , APGAR 7/8/8hyperbilirubinamia, subluxation of hip joint, Pes calcaneovalgus congenitus, periodic breathing, stridor cong, feeding problems. at 3 months: extreme restlessness, nearly opstotone posture; OFC now at 10. centile; at 5m: hyperexitability, developmental delay
19-
W-
p12/
3-1		 male/
16y 8 m		 PBL n.a. 47,XY,+r1[?%]/
47,XY,+r2[?%]		 r(19)(::p1?2→q11::)*/
r(19)(::p11→q1?2::)*		 cep probes wcp 19, centromere near cosmids overweight, MR with macrocephaly, hypertelorism, antimongoloid slants, epilepsy (convulsive seizures with or without hyperthermia from 1y)
{28}
19-
W-
p12/
4-1		 female/
15y		 PBL de novo 47,XX,+r[100%] r(19)(::p12→q12::)
aCGH: 23.12-33.29MB		 M-FISH, diff. FISH-probes, aCGH see below {45}
As newborn child seemed normal. Later in childhood, developmental delay, particularly of language skills. At 15y height [gt]95th centile, high forehead, down-slanting palpebral fissures, wide diastema between upper incisors, high palate, short fraenulum of the upper lip, prominent lips and scoliosis, long and tapering fingers, fifth finger campodactyly, hallux valgus, fifth toe clinodactyly, pes planus. Overall neuropsychological picture: borderline intelligence with specific cognitive deficits in the processing of verbal information as well as learning disorders. Brain magnetic resonance imaging: enlarged cisterna magna with slight hypoplasia of the basal part of the cerebellar hemispheres as well as of the inferior vermis; the posterior fossa was normal.
19-
W-
p12/
4-2		 female/
14y		 PBL n.a. 47,XX,+mar[10]/
46,XX[10]		 min(19)(:p12→q12:) midi normal after birth, later slight MR {0} provided from Hungary
19-
W-
p12/
4-3		 male/
prenatal		 AF de novo 47,XY,+mar[80%]/
46,XY[20%]		 r(19)(::p12→q12::)
aCGH (hg19): 21.22-31.64MB		 aCGH AMA, TOP; autopsy DYS like triangular face, bilateral camptodactyly {58} case 3
19-
W-
p12/
4-4		 male/
26y		 PBL de novo 47,XY,+mar[100%] r(19)(::p12→q11.1~12::)
aCGH not informative for 19q; break in 19p: 21.73 Mb (hg19)		 aCGH see below {58} case 4
at birth weight 75–90°p length at 50–75 p. At 6 months weight loss associated with recurrent vomiting; language delay; repeated adenoids problems, hearing loss diagn at 3 y. ADHS; at school: IQ = 4
19-
W-
p12/
4-4		 female/
28y		 PBL n.a. 47,XX,+mar[10]/
46,XX[9]
r(19)(::p12→q12::) cenM, subcenM
 slight mental retardation {0} provided from Leipzig, Germany
19-
W-
p12/
5-1
°°°
 male/
13y		 PBL
(EKF-
cellbank)		 de novo 47,XY,+mar[23]/
46,XY[7]		 min(19)(:p12→q13.11~13.12:)
size in p: RP11-22G10 in subcenM present on sSMC (22.98 MB - no signal in p on array), in q according to array: sSMC goes to 36.3 MB		 cep; wcp;
subcenM; aCGH		 see below {0} provided from Germany
Normal pregnancy and birth. At birth weight 4080g, length 52cm, APGAR 9/10; OFC 37cm; sitting with 6 months, walking with 13 months, speaking with 3 years. DD noticed from ~5 years. Anxious and impulsive behavior,
19-
W-
p12/
5-2
°°°
 male/
4y		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[50%]/
46,XY[50%]		 min(19)(:p12→q13.1?1:) cenM;
subcenM		 DD {0} provided from Germany
19-
W-
p12/
5-3
°°°
 male/
4y 10m		 PBL n.a. 47,XY,+mar[44-60%]/
46,XY[54-40%]		 mar(19)(:p12→q13.11:)
positions: 19.80 to 38.21		 aCGH normal pregnancy apart from oligoamnion in last month. weight length and APGAR normal at birth; Asperger syndrome = autism; mild hypotonia; milestones in DD {41;44}
19-
W-
p12/
6-1		 female/
7y		 PBL n.a. 47,XX,+r[3]/
46,XX[7]		 r(19)(::p12→q13.2::)
aCGH: 23.73 to 43.47		 different FISH-probes; aCGH global DD {46} case 11
19-
W-
p12/
6-2		 female/
6y		 PBL de novo 47,XX,+r[49%]/
46,XX[51%]		 r(19)(::p12→q13.2::)
aCGH: n.i. in p; in q: 40.66 Mb (hg19)		 FISH and aCGH Birth weight 50°p, length 25°p, head circumference 10–25°p. Apgar 9/10, DD. At 6y: macrocephaly, other DYS, strabismus dermatitis hypo- /hyperpigmented areas {58} case 1
19-
W-
p12/
6-3		 female/
1y		 PBL
bucal mucosa
 n.a. 47,XX,+r[20%]/
46,XX[80%]
BM: 22.5% with sSMC 		r(19)(::p12→q13.2::)
aCGH no CNV detected 		FISH and aCGH seizures,  global DD, secondary microcephaly and strabismus {62}
19-
W-
p12/
6-4		 male/
4y		 PBL
 de novo
 47,XY,+mar[7]/
46,XY[32] 		r(19)(p12q13.?2)(RP11-22G10+,midi19p/q+,D1Z5/ D5Z2/D19Z3+,RP11-46I12+,
RP11-880C20+,CTC-246B18+)
aCGH no CNV detected
 		cenM, subcenM, BACs, and aCGH developmental (mainly speech) delay {0}
19-
W-
p12~11/
1-1		 male/
5y		 PBL n.a. 47,XY,+mar[8]/
46,XY[42]		 min(19)(:p12~11→q13.1:)
arr[hg19]:28.27-30.12 Mb		 cenM;
subcenM;
aCGH		 DD, brachyturricephalus, muscular hypotonia {0} provided from, Germany
19-
W-
p11/
1-1
°°°
 male/
5y		 PBL de novo 47,XY,+mar[?]/
46,XY[?]		 min(19)(:p11→q13.11:)
FISH-data:
26.7-at least to 33.3MB		 cenM;
subcenM		 see below {17} case 19-1
Pre- and postnatally no clinical signs before the age of 1.5 years; then slight DD: first speech with 18 months; walking with 22 months; weight: 8.82kg (1.5y); height 81cm (1.5y); head circumference 49.7cm (1.5y); minimal cerebral dysfunction (MCD) at age of 4; no severe clinical signs.
19-
W-
p11/
1-2
°°°
 n.a./
2y		 PBL de novo 47,+mar[100%] min(19)(:p11→q13.11:)*
size ~0.4MB		 n.a.; subcenM with 3 BACs; aCGH see below {25} case 20
Metopic craniosynostosis; ventricular septal defect (VSD); strabismus; significant DD; not rolling or sitting at 7 months of age; “not talking” at 27 months of age.
19-
W-
p11/
2-1
°°°
 female/
4.5y		 PBL de novo 47,XX,+r[30%]/
46,XX[70%]		 r(19)(::p11→q13.32::)
aCGH: no euchromatin detected		 midi;
aCGH		 see below {0} provided from Israel
severely affected with mental retardation, microcephaly and dysmorphic features including small ears, anti-mongolian slant, broad faces, bulbous nose, large cheeks and somewhat furrowed forehead
19-
W-
p11/
3-1		 see 19-Ud-2
19-
W-
p1?0/
1-1
°°°
 female/
49y
PBL		 n.a. 47,XX,+r[7]/
46,XX[18]		 r(19)(::p1?0→q13.42::)* CGH; cep1/5/19; wcp 19; pcp19p, pcp19q, subtel 19q see below {5}
walking at age of 2y, speech at 4-5y; residential care since age of 16y. At age of 71y height of 132 cm, head circumference of 52.5 cm, blood pressure of 180/110 mm Hg, poor peripheral circulation, earIy hypertensive changes in both optic fundi, poor vision, Upward slanting palpebral fissures, large tongue, protruding lower lip, normal pa1mar creases, normal female genitalia, and deep set toe nails; radiological signs of subluxed, osteoarthritic hip joints. Moderate to mild learning disability.
19-
W-
p10/
2-1		 see McCl-19-W-p10/1-1 {7}
19-
W-
p10/
3-1
°°°
 male/
14y		 PBL de novo 47,XY,+mar[100%] r(19)(::p10→q13.2::)* M-FISH cep probes; CGH see below {22}
Born at 39 weeks gestation after a pregnancy with gestational diabetes and a delivery reported to be prolonged; birth weight was 3950g. Hypertonia was noticed from birth and continued throughout the first 6 months of life; Significant for motor and cognitive developmental delay identified from early infancy. At 31, 36 and 60 months of age he had the developmental age of 18, 20 and 30 months, respectively. He gained speech skills at 6 years of age and currently, his cognitive skills are very limited, with poor learning and speech abilities; limited social interactions; mild dysmorphic features including macrocranium, round face, upslanting eyes and thick auricles Brain CT and MRI performed revealed cortical atrophy, partial agenesis of the corpus callosum and mild changes in the white matter in the occipital lobes; several generalized tonic-clonic seizures started at 1 year of age. EEG and video-EEG performed at the first and third years of life showed waves and spikes from foci in both hemispheres with a few generalized bursts, and slow background activity. Growth pattern was characterized by height at the 50th percentile over the first 2 years of life and along the 90th percentile thereafter, with head circumference at the 90th percentile from infancy; most prominent growth feature was a remarkable weight gain: BMI 33.5, 44, 46 and 51 at 5, 8, 10 and 12 years of age, respectively. Subsequent to morbid obesity, he developed several co-morbidities:(1) hypercholesterolemia (2) moderate elevations in liver transaminase levels, (3) hyperuricemia that responded to a short-term treatment with allopurinol; (4) a mild degree of pulmonary hypertension, documented by echocardiography; and (5) Pickwickian syndrome, manifested by night snoring, daytime somnolence and episodes of sleep apnea. At about 13 years of age the patient started pubertal maturation, and currently (at 14 years of age) he is in Tanner pubertal stage.
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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
19-
W-
IMB-
q12/
1-1 to 1-7 		male and female/
postnatal
 PBL de novo 46,dup(19)(pter→q13.2::q12→qter) aCGH, FISH IUGR, DYS, microcephaly and similar {59; 60; 61}

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
19-
CW-
1		 female/
5y		 PBL de novo 47,XX,+mar[36]/
46,XX[54]		 r(19) FISH probe wcp 19 see below {12}
Normal pregnancy and birth; weight: 4870g, length 55g, OFC 37.5g →all [gt]95th centile; at 11m developmental delay; at 0m hypotonia, gross motor delay; at 5y still weight, lenght and OFC [gt]90. centile; mild dysmorphism including bifronatal narrowing, prominent glabella, deep-set eyes, bulbous nasal nip, prominent lower jaw, short fat hands with long , tapering fingers; mild hypotonia, slightly hunched back
19-
CW-
2
 female/
0.5y		 PBL de novo 47,XX,+mar[60%]/
46,XX[40%]
in both monozygotic twins		 mar(19) FISH probe wcp 19 see below {13}
Twins born in week 35 of gestation, mild neonatal jaundice; normal at birth; at 5m twin II had a generalized tonic-clonic seizure associated with fever; at 6m other similar seizures without feaver; at 22m she was found dead in her cot and was presumed to have had a prolonged seizure.  In Twin I eyelid twitching and flickering at 6m and seizures subsequently. DD occurred and lost of ability to walk unaided at 18m. OFC always on 90. centile; abnormal EEG; DD, died at 4y8m due to a prolonged status epilepticus (4h)
19-
CW-
3		 male/
prenatal		 AF de novo 47,XY,+mar[27]/
46,XY[23]		 r(19) D1Z7/D5Z2/D19Z3; wcp 19 see below {14} case 3
Amniocentesis due to abnormalities identified on ultrasound: oligohydramnios, clubfoot and increased nuchal thickness. parents elected to TOP
19-
CW-
4
 female/
1y		 PBL de novo 47,XX,+mar[40%]/
46,XX[60%]		 r(19p) M-FISH; D1Z7/D5Z2/D19Z3; wcp 19; pcp19p; pcp19q; sub-telomere 19p 19q12 probe RP11-375D11 see below {15}
normal pregnancy, at birth weight: 3055g, length 49cm, OFD 33cm; APGAR 5/7; redundant skin, two cavernous angiomas on the back, hypertrophic clitoris, congenital hip dysplasia which required orthopedic correction, cutis marmorata, peripheral cyanosis, joint hyper laxity, axial hypotonia, transient hypocalcemia and hypoglycemia. Att 12 months, no head and trunk control, severely hypotonic, thin hair, high and prominent forehead, round face, sparse eyebrows, downward slanted palpebral fissures, hypertelorism, depressed mid face, low nasal bridge, short nose, anteverted nares, chubby cheeks, long philtrum, protruding tongue, prominent lower lip, receding chin, low-set asymmetric and dysmorphic ears with prominent helix, spaced nipples, and tapering fingers (Fig. 1). Brain MRI disclosed the enlargement of the lateral ventricles with moderate to severe cortical atrophy.
19-
CW-
5
 female/
postnatal		 PBL n.a.
47,XX,+mar[?%]		 min(19)
44.9 MB size		 aCGH ophthalmologic disease {39} 1 case
19-
CW-
6
n.a./
prenatal		 AF de novo 47,+mar[?%] r(19)
n.a.
abnormal sonography; TOP		 {40} 1 case
19-
CW-
7		 female/
1m		 PBL de novo 47,XX,+mar[92]/
46,XX[83]		 mar(19)(:p11→12:)
mlpa p181x3		 MLPA; cep 1/5/19 abnormal facial appearance {0} provided from Spain
19-
CW-
8		 female/
2y		 PBL n.a. 47,XX,+r[100%] r(19) SKY multiple congenitals abnromalities {48} case F0628560
19-
CW-
9		 female/
12y		 PBL n.a. 47,XX,+mar[100%] min(19) SKY MR {48} case F0642312
19-
CW-
10		 male/
1.5 y		 PBL de novo 47,XY,+mar[14]/
46,XY[26]		 mar(19) M-FISH DD {57} case 11