Description:
TURNER SYNDROME
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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POLISH/YUGOSLAVIAN/IRISH/ITALIAN
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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46,X,der(X)t(X;7)(q21;q21)[23]/45,X[2].arr[hg19] Xq21.1q28(77132688-155233846)x1,7q21.12q36.3(87311679-159119708)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Subject diagnosed with Mosaic Turner syndrome and trisomy 7q at approximately 1 year of age; 20 week ultrasound revealed enlarged ventricles, mother had premature rupture of membranes at 32 weeks, subject was born at 34 weeks with numerous neonatal problems: temperature dysregulation, initial hypoglycemia, shallow breathing, hyperbilirubinemia requiring phototherapy and significant feeding problems requiring NG tube; discharged at 23 days old; Dysmorphic features include: very fair translucent skin; easily visible vasculature; macrocephaly; high broad forehead; bitemporal narrowing; bony protuberance over the occiput; underdeveloped orbital ridges; delayed closure of anterior fontanel; synophyrs-central brow lighter in pigmentation; hypertelorism; upturned nose tip; low set ears; under bite; high arched palate; delayed dentition; bifid uvula; small sublingual frenulum; neck mildly short; pectus excavatum-chest relatively narrow; palpable spleen tip about 1 cm below left costal margin; significant scoliosis (thoraco-lumbar); prominence of the right paraspinal region when bending forward in sitting position; shallow sacral dimple; downy pubic hair; hyperextension of ankles and elbows; left hand clinodactyly with 1 palmar crease; right hand clinodactyly with 1 palmar crease; right leg bulkier than left; prominent heels with pes planus; broad first toes; small gap between the 4th and 5th toes; developmental delay; motor delay; hyptonia; arching noted at 4 months; flaps hands when excited; clenches fists; protrudes tongue at rest; tendency to point toes when supine, hyperextension of ankles; head lag; varied muscle tone; long history of constipation; history of serous otitis media; eustachian tube dysfunction; snoring; chronic rhinitis; tonsillar and adenoid disturbance; history of intermittent “heavy breathing” while sleeping; mouth breathing; abnormal female karyotype: 46,X,der(X)t(X;7)(24).ish 7q11.23 (ELN-)[24]/45,X[6]; XIST gene determined to be on the derivative X chromosome by XIST-containing BAC FISH probe; normal MRI; normal abdominal ultrasound, pelvic ultrasound and renal ultrasound; head x-ray revealed enlargement of the adenoidal soft tissues; echocardiogram revealed very mild prolapse of the anterior leaflet of the mitral valve and a prominence of the septum in the sub-aortic region with no LV outflow obstruction; assistive devices includes orthotics (DAFO’s); treatments include early intervention, physical, speech, and occupational therapy; communicates using sign language.
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