A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation.
We report a boy with some clinical symptoms compatible with a diagnosis of incomplete DiGeorge syndrome. He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome. High-resolution banding analysis revealed that his karyotype was 45,XY,-14,-22, +der(14)(14pter----14q32.32::22q11.21----22qter), the consequence of a maternal reciprocal translocation between chromosomes 14 and 22. Precise localization of the gene responsible for the present DiGeorge syndrome was assigned to subband 22q11.1.
Nukina
S
S
Nishimura
Y
Y
Kinugasa
A
A
Sawada
T
T
Hamaoka
K
K
Inazawa
J
J
Tsuda
S
S
Abe
T
T
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D008297:Male; D011859:Radiography; D013950:Thymus Gland / Q000000981:diagnostic imaging; D014178:Translocation, Genetic; D014965:X-Rays