Description:
PSEUDOTRISOMY 13 SYNDROME (HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| 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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Hispanic/Latino
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY.arr 15q11.2(18846746-20089383)x1,15q11.2(20224750-20852202)x3,15q11.2(21902410-22054764)x1
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; born at 35 weeks gestation; birth weight 3655 g; holoprosencephaly identified on prenatal ultrasound; head circumference at birth 39.5 cm (>98th percentile); MRI revealed semilobar holoprosencephaly with large extra-axial interhemispheric loculated cysts and agenesis of corpus callosum; normal echocardiogram; macrocephaly at 14 months; bilateral epicanthal folds; exotropia of left eye; hypoplastic ala nasae; capillary hemangioma over forehead; pre-and postaxial polysyndactyly involving all extremities with a total of 27 digits; generalized hypotonia; severe motor delay; normal chromosomes; normal serum cholesterol and 7-dehydrocholesterol. |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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