Description:
18Q- SYNDROME
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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Black/African American
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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,XX,del(18)(q22).arr 18q22.1q23(63271972-76116029)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 and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 18: DELETION Aneuploid Segment (-)18q22>18qter |
| Remarks |
18q- syndrome; mental retardation; abnormal hands; hypotonia; abnormal genital development; midface hypoplasia; carp-mouth; first-arch abnormalities; abnormal feet; visceral anomalies; umbilical hernia; ASD; 15 Mb deletion |
| Popovic M1, Dheedene A2, Christodoulou C1, Taelman J1, Dhaenens L1, Van Nieuwerburgh F3, Deforce D3, Van den Abbeel E1, De Sutter P1, Menten B2, Heindryckx B, Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing Human Reproduction33:1342-1354 2018 |
| PubMed ID: 29796631 |
| |
| 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 |
| |
| Silverman GA, Schneider SS, Massa HF, Flint A, Lalande M, Leonard JC, Overhauser J, van den Engh G, Trask BJ, The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am J Hum Genet56:926-37 1995 |
| PubMed ID: 7717403 |
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