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Triploid mosaicism in a 45,X/69,XXY infant
Author(s) -
Quigley Denise I.,
McDonald Marie T.,
Krishnamuthy Vidya,
Kishnani Priya S.,
Lee Mary M.,
Haqq Andrea M.,
Goodman Barbara K.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30943
Subject(s) - karyotype , biology , testis determining factor , ploidy , scrotum , chromosome , hypospadias , genetics , klinefelter syndrome , y chromosome , anatomy , andrology , endocrinology , medicine , gene
We report on an infant referred for chromosome analysis during the neonatal period due to ambiguous genitalia. The genitalia appeared male with bilaterally palpable testes, penoscrotal hypospadias, chordee, and a bifid scrotum. Chromosome analysis and interphase FISH analysis of lymphocytes showed a 45,X karyotype and no evidence for SRY in 200 nuclei examined, respectively. Subsequent chromosome analysis of fibroblasts revealed a 69,XXY karyotype. Molecular studies were carried out to determine the etiology of the chromosome findings. Results indicated that the two cell lines are mosaic rather than chimeric and that the triploidy resulted from delayed dispermy rather than delayed polar body inclusion. To our knowledge this is the first reported living individual with (near) diploid/triploid mosaicism for 45,X/69,XXY. © 2005 Wiley‐Liss, Inc.