PMID- 8725766
OWN - NLM
STAT- MEDLINE
DCOM- 19961115
LR  - 20091119
IS  - 0024-7758 (Print)
IS  - 0024-7758 (Linking)
VI  - 41
IP  - 5
DP  - 1996 May
TI  - Identification of a subtle chromosomal translocation in a family with recurrent 
      miscarriages and a child with multiple congenital anomalies. A case report.
PG  - 367-71
AB  - BACKGROUND: Couples who have had multiple miscarriages are at risk for carrying a 
      balanced translocation since these carriers may produce unbalanced gametes. Small 
      imbalances may lead to offspring with multiple congenital anomalies. This report 
      emphasizes the importance of obtaining cytogenetics studies in couples with 
      recurrent spontaneous abortions. CASE: A couple was referred for cytogenetic 
      prenatal testing because of a history of recurrent miscarriages and an infant who 
      died at 6 weeks of age with multiple congenital anomalies. Although the parental 
      chromosomes were previously reported to be normal in another laboratory, the 
      pedigree was consistent with a chromosomal etiology, and parental blood samples 
      were reevaluated. The father was found to carry a subtle reciprocal translocation 
      t(7;11)(q35;q23.3). Slides were obtained from the previous miscarriages and the 
      infant who died. On reexamination, one miscarriage and the infant were found to 
      be chromosomally unbalanced, carrying the derivative 7, resulting in partial 
      monosomy for 7q and partial trisomy for 11q. The other miscarriage had a 
      chromosomally normal female karyotype. Maternal cell contamination could not be 
      excluded in that case. The current pregnancy was found to carry the balanced 
      translocation. Since the rearrangement was quite small and subtle, fluorescence 
      in situ hybridization (FISH) using "painting" probes for chromosomes 7 and 11 was 
      used to confirm the balanced state in the fetus. CONCLUSION: This family 
      illustrates the importance of performing high-quality chromosome studies on 
      people who have spontaneous abortions and children with multiple congenital 
      anomalies. The use of FISH probes was helpful in confirming this subtle 
      rearrangement.
FAU - Shaffer, L G
AU  - Shaffer LG
AD  - Kleberg Cytogenetics Laboratory, Department of Molecular and Human Genetics, 
      Baylor College of Medicine, Houston, Texas 77030, USA.
FAU - Spikes, A S
AU  - Spikes AS
FAU - Macha, M
AU  - Macha M
FAU - Dunn, R
AU  - Dunn R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Reprod Med
JT  - The Journal of reproductive medicine
JID - 0173343
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Abortion, Habitual/*genetics
MH  - Adult
MH  - Chromosomes, Human, Pair 11
MH  - Chromosomes, Human, Pair 7
MH  - Female
MH  - Fluorescence
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization
MH  - Infant, Newborn
MH  - Infant, Small for Gestational Age
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - *Translocation, Genetic
EDAT- 1996/05/01 00:00
MHDA- 1996/05/01 00:01
CRDT- 1996/05/01 00:00
PHST- 1996/05/01 00:00 [pubmed]
PHST- 1996/05/01 00:01 [medline]
PHST- 1996/05/01 00:00 [entrez]
PST - ppublish
SO  - J Reprod Med. 1996 May;41(5):367-71.