PMID- 9382131
OWN - NLM
STAT- MEDLINE
DCOM- 19971112
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 72
IP  - 2
DP  - 1997 Oct 17
TI  - Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 
      4 in a 45,X male child.
PG  - 125-8
AB  - 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.
FAU - Yenamandra, A
AU  - Yenamandra A
AD  - Center for Human and Molecular Genetics, UMDNJ-NJ Medical School, Newark, USA.
FAU - Deangelo, P
AU  - Deangelo P
FAU - Aviv, H
AU  - Aviv H
FAU - Suslak, L
AU  - Suslak L
FAU - Desposito, F
AU  - Desposito F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Probes)
RN  - 0 (DNA Transposable Elements)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (SRY protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Chromosomes, Human, Pair 4
MH  - DNA Probes
MH  - *DNA Transposable Elements
MH  - DNA-Binding Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - *Nuclear Proteins
MH  - *Sex Determination Processes
MH  - Sex-Determining Region Y Protein
MH  - *Transcription Factors
MH  - *Y Chromosome
EDAT- 1997/10/23 22:34
MHDA- 2000/06/20 09:00
CRDT- 1997/10/23 22:34
PHST- 1997/10/23 22:34 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/10/23 22:34 [entrez]
AID - 10.1002/(SICI)1096-8628(19971017)72:2<125::AID-AJMG1>3.0.CO;2-U [pii]
AID - 10.1002/(sici)1096-8628(19971017)72:2<125::aid-ajmg1>3.0.co;2-u [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 Oct 17;72(2):125-8. doi: 
      10.1002/(sici)1096-8628(19971017)72:2<125::aid-ajmg1>3.0.co;2-u.