First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies.
Northup
Jill K
JK
Department of Pathology, University of Texas Medical Branch, Galveston, Texas, USA.
Wain
Kären E
KE
Hawkins
Judy C
JC
Matalon
Reuben
R
Velagaleti
Gopalrao V N
GV
D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics*; D002547:Cerebral Palsy / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D001523:Mental Disorders / Q000235:genetics*; D012640:Seizures / Q000235:genetics*