Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child.
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.
Yenamandra
A
A
Center for Human and Molecular Genetics, UMDNJ-NJ Medical School, Newark, USA.
Deangelo
P
P
Aviv
H
H
Suslak
L
L
Desposito
F
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4; D015342:DNA Probes; D004251:DNA Transposable Elements; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014998:Y Chromosome
D015342:DNA Probes; D004251:DNA Transposable Elements; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors