Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature.
In this report we describe a female neonate with 12p interstitial deletion (karyotype: 46,XX,del(12)(pter----p13.1::p11.2----cen----qter). In addition to severe psychomotor retardation, facial dysmorphism and Turner like stigmata, she presented marked hypoplasia of the external genitalia and right heart hypoplasia. Study of LDH activity showed a marked decrease of LDHB activity contrasting with an elevated LDHA.
Fryns
J P
JP
Centre for Human Genetics, UZ Gasthuisberg, Leuven, Belgium.
Kleczkowska
A
A
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase