PMID- 8839890
OWN - NLM
STAT- MEDLINE
DCOM- 19961209
LR  - 20161123
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 39
IP  - 3
DP  - 1996
TI  - Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities.
PG  - 168-72
AB  - The nature and the origin of de novo small marker chromosome found at prenatal 
      diagnosis were determined by fluorescence in situ hybridization (FISH) using 
      chromosome centromere-specific probes and by chromosome in situ suppression 
      (CISS) using chromosome specific libraries. The small marker was characterized as 
      being derived from chromosome 22. The fetus which exhibited a minichromosome had 
      kidney malformations and after birth showed clinical features consistent with the 
      Duane anomaly. One previous case with Duane anomaly and abnormalities of 
      urogenital tract associated to a bisatellitated marker derived from chromosome 22 
      was reported. These findings indicate that a gene or genes located in the region 
      of chromosome 22pter-->q11 may be associated with the Duane anomaly and the 
      development of the urogenital tract.
FAU - Tibiletti, M G
AU  - Tibiletti MG
AD  - Servizio di Anatomia ed Istologia Patologica, Ospedale Multizonale, Varese, 
      Italy.
FAU - Sala, E
AU  - Sala E
FAU - Colombo, D
AU  - Colombo D
FAU - Arlati, S
AU  - Arlati S
FAU - Varisco, T
AU  - Varisco T
FAU - La Placa, G
AU  - La Placa G
LA  - eng
PT  - Journal Article
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
RN  - 0 (DNA, Satellite)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chromosomes, Human, Pair 22/*ultrastructure
MH  - DNA, Satellite/genetics
MH  - Duane Retraction Syndrome/diagnostic imaging/embryology/*genetics
MH  - Female
MH  - Fetal Growth Retardation/diagnostic imaging/genetics/pathology
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/embryology/*genetics
MH  - Male
MH  - Polycystic Kidney Diseases/diagnostic imaging/embryology/*genetics
MH  - Pregnancy
MH  - Ultrasonography, Prenatal
EDAT- 1996/01/01 00:00
MHDA- 1996/01/01 00:01
CRDT- 1996/01/01 00:00
PHST- 1996/01/01 00:00 [pubmed]
PHST- 1996/01/01 00:01 [medline]
PHST- 1996/01/01 00:00 [entrez]
PST - ppublish
SO  - Ann Genet. 1996;39(3):168-72.