Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities.
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.
Tibiletti
M G
MG
Servizio di Anatomia ed Istologia Patologica, Ospedale Multizonale, Varese, Italy.
Sala
E
E
Colombo
D
D
Arlati
S
S
Varisco
T
T
La Placa
G
G
D000328:Adult; D000649:Amniocentesis; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D004276:DNA, Satellite / Q000235:genetics; D004370:Duane Retraction Syndrome / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000196:embryology / Q000235:genetics*; D008297:Male; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D004276:DNA, Satellite