Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child.

Abstract

A 45,X chromosome complement was found in the lymphocytes and skin fibroblast cultures of a male infant with minor facial anomalies and gastrointestinal abnormalities. Fluorescence in situ hybridization (FISH) studies with DNA probes specific for the entire Y chromosome (painting) and SRY identified insertion of a short piece of Y chromosome DNA, including the SRY region, into a der(4) chromosome at 4p15. FISH studies with DNA probes specific for Wolf-Hirschhorn syndrome (WHS) and telomere of 4p indicated that these 2 regions were intact and that the insertion of Y DNA had occurred proximal to the WHS region. High-resolution chromosome analysis performed after FISH studies showed an altered banding pattern of 4p at the region of insertion. The typical Giemsa dark band of 4p15 was consistently replaced by a gray band; this probably indicates deletion of the distal part of 4p15. The consequences of the double-chromosome anomaly in this patient were discussed in relation to his phenotype.

• Authors: A Yenamandra, P Deangelo, H Aviv, L Suslak, F Desposito
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 72 Issue 2 Pg. 125-8 (Oct 17 1997) ISSN: 0148-7299 [Print] United States
• PMID: 9382131 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA Probes
• DNA Transposable Elements
• DNA-Binding Proteins
• Nuclear Proteins
• SRY protein, human
• Sex-Determining Region Y Protein
• Transcription Factors

Topics

• Abnormalities, Multiple (genetics)
• Chromosomes, Human, Pair 4
• DNA Probes
• DNA Transposable Elements
• DNA-Binding Proteins (genetics)
• Humans
• In Situ Hybridization, Fluorescence
• Infant, Newborn
• Karyotyping
• Male
• Nuclear Proteins
• Sex Determination Processes
• Sex-Determining Region Y Protein
• Transcription Factors
• Y Chromosome