PMID- 12567417
OWN - NLM
STAT- MEDLINE
DCOM- 20030807
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 117A
IP  - 2
DP  - 2003 Mar 1
TI  - Sperm segregation patterns by fluorescence in situ hybridization studies of a 
      46,XY,t(2;6) heterozygote giving rise to a rare triploid product of conception 
      with a 69,XXY,t(2;6)(p12;q24)der(6)t(2;6)(p12;q24)pat karyotype.
PG  - 172-6
AB  - A blighted ovum diagnosed initially by ultrasound was determined to be a partial 
      hydatidiform mole with a 69,XXY,t(2;6)(p12;q24)der(6)t(2;6)(p12;q24)pat karyotype 
      by cytogenetic analysis. The triploid state arose through dispermy in which both 
      spermatozoa carried rearranged chromosomes, one carrying a balanced translocation 
      through alternate segregation and the other an unbalanced derivative chromosome 6 
      through adjacent 1 segregation. Segregation analysis of 7,000 spermatozoa from 
      the father was performed with a three-color fluorescence in situ hybridization 
      (FISH) protocol using alpha-satellite 6, telomeric 2p, and telomeric 6q probes. 
      Segregation frequencies of normal and balanced products (alternate segregation), 
      adjacent 1, adjacent 2, and 3:1 were 49.9%, 42.4%, 2.5%, and 4.2%, respectively. 
      The high percentage of alternate segregation is consistent with the knowledge of 
      their preferential outcome. However, the high incidence of adjacent 1 sperm 
      highlights the abnormality risk. Alternate and adjacent 1 segregations (92.3%) 
      accounted for the observed rearranged chromosomes in the triploid. The most 
      viable imbalanced combination would be the one carrying the der(6) chromosome, 
      but since the unbalanced segment comprises 3.6% of the haploid autosomal length 
      (HAL), no risk of a viable imbalanced offspring is indicated. However, an 
      increased likelihood of recurrent miscarriages is likely, and this is confirmed 
      by the couple's two earlier miscarriages. Sperm segregation patterns of 
      translocation carriers determined by FISH can help in ascertaining expected and 
      unexpected karyotypes. The high frequency of adjacent 1 products shows that the 
      presence of the additional derivative chromosome in the partial mole, though rare 
      in occurrence, should be less surprising.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Lim, A S T
AU  - Lim AS
AD  - Department of Pathology, Singapore General Hospital, Singapore. 
      stalvinlim@hotmail.com
FAU - Lim, T H
AU  - Lim TH
FAU - Kee, S K
AU  - Kee SK
FAU - Chieng, R
AU  - Chieng R
FAU - Tay, S K
AU  - Tay SK
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - *Aneuploidy
MH  - Chromosome Banding
MH  - Chromosome Segregation/*genetics
MH  - Chromosomes, Human, Pair 2/genetics
MH  - Chromosomes, Human, Pair 6/genetics
MH  - Embryo, Mammalian/*metabolism
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Hydatidiform Mole/genetics/pathology
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - Spermatozoa/*metabolism
MH  - *Translocation, Genetic
MH  - Uterine Neoplasms/genetics/pathology
EDAT- 2003/02/05 04:00
MHDA- 2003/08/09 05:00
CRDT- 2003/02/05 04:00
PHST- 2003/02/05 04:00 [pubmed]
PHST- 2003/08/09 05:00 [medline]
PHST- 2003/02/05 04:00 [entrez]
AID - 10.1002/ajmg.a.10893 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Mar 1;117A(2):172-6. doi: 10.1002/ajmg.a.10893.