PMID- 10405445
OWN - NLM
STAT- MEDLINE
DCOM- 19990830
LR  - 20051117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 85
IP  - 5
DP  - 1999 Aug 27
TI  - Prenatal evaluation of a de novo X;9 translocation.
PG  - 476-8
AB  - A case of X-autosome translocation was diagnosed prenatally [46,X, t(X;9)(p21.3 
      approximately 22.1;q22]. We describe the use of fluorescence in situ 
      hybridization (FISH) to estimate the integrity of the Duchenne muscular dystrophy 
      (DMD) gene. X-inactivation studies were used as well to assess the probability of 
      phenotypic abnormalities associated with functional partial disomy X and monosomy 
      9.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Feldman, B
AU  - Feldman B
AD  - Division of Reproductive Genetics, Department of Obstetrics and Gynecology, Wayne 
      State University, Detroit, Michigan 48201, USA.
FAU - Kramer, R L
AU  - Kramer RL
FAU - Ebrahim, S A
AU  - Ebrahim SA
FAU - Wolff, D J
AU  - Wolff DJ
FAU - Evans, M I
AU  - Evans MI
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (FMR1 protein, human)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (RNA-Binding Proteins)
RN  - 139135-51-6 (Fragile X Mental Retardation Protein)
SB  - IM
MH  - Adult
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 9
MH  - Female
MH  - Fetal Death
MH  - Fragile X Mental Retardation Protein
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Muscular Dystrophies/*genetics
MH  - Nerve Tissue Proteins/genetics
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - *RNA-Binding Proteins
MH  - *Translocation, Genetic
MH  - *X Chromosome
EDAT- 1999/07/16 00:00
MHDA- 1999/07/16 00:01
CRDT- 1999/07/16 00:00
PHST- 1999/07/16 00:00 [pubmed]
PHST- 1999/07/16 00:01 [medline]
PHST- 1999/07/16 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19990827)85:5<476::AID-AJMG8>3.0.CO;2-J [pii]
PST - ppublish
SO  - Am J Med Genet. 1999 Aug 27;85(5):476-8.