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Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring
Author(s) -
Spinner Nancy B.,
Saitta Sulagna C.,
Delaney Daniel P.,
Colliton Raymond,
Zderic Stephen A.,
Ruchelli Eduardo,
Zackai Elaine,
Kolon Thomas F.
Publication year - 2008
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.32358
Subject(s) - intracytoplasmic sperm injection , karyotype , amniocentesis , offspring , ring chromosome , infertility , y chromosome , supernumerary , sterility , andrology , gynecology , biology , sperm , genetics , chromosome , medicine , pregnancy , prenatal diagnosis , fetus , anatomy , gene
We present a newborn infant with ovotesticular disorder of sex development and sex chromosome mosaicism with a supernumerary ring(Y), and a normal female cell line (47,XXr(Y)[10]/46,XX[40]. The ring (Y) was inherited from the child's father, and was transmitted following assisted reproductive technology and intracytoplasmic sperm injection (ICSI). The father presented with infertility and oligospermia, but cytogenetic analysis had not been carried out as part of the infertility workup. The Y containing cell line had not been seen on amniocentesis, which had shown a 46,XX apparently normal female karyotype in all cells studied. Molecular analysis using polymorphic probes from the X chromosome demonstrated that the 47,XXr(Y) cell line in the child was consistent with inheritance from the father, following meiosis I paternal non‐disjunction. This report underscores the need to obtain chromosome analysis in couples with infertility who undergo assisted reproduction. © 2008 Wiley‐Liss, Inc.