Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.
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.
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. spinner@mail.med.upenn.edu
Nancy B
NB
Spinner
Sulagna C
SC
Saitta
Daniel P
DP
Delaney
Raymond
R
Colliton
Stephen A
SA
Zderic
Eduardo
E
Ruchelli
Elaine
E
Zackai
Thomas F
TF
Kolon
D000483:Alleles; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats; D009030:Mosaicism; D011247:Pregnancy; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations; D020554:Sperm Injections, Intracytoplasmic / Q000009:adverse effects*