TY - JOUR
T1 - Malformation syndrome of duplication 12q24.1- >qter
AU - Melnyk, A. R.
AU - Weiss, L.
AU - Van Dyke, D. L.
AU - Jarvi, P.
PY - 1981
Y1 - 1981
N2 - While duplication and deletion of the short arm of chromosome 12 cause well-recognized syndromes, duplication of the long arm of chromosome 12 is rarely observed. The authors are reporting a duplication of chromosome 12 distal to band q24.1 in a five-month-old child. His chromosome constitution is 46,XY,-4,+der(4),t(4:12)(p16;24.1)mat. The balanced translocation is also carried by his maternal grandmother and two of the mother's brothers. The malformation syndrome consisted of unusual facial appearance and anomalies of the musculoskeletal, cardiovascular, genitourinary, and central nervous systems. Four previously reported patients had similar break points on chromosome 12 with similar malformations; therefore, phenotype-karyotype correlation suggests a definitive malformation syndrome associated with duplication of chromosome region 12q24.1→qter.
AB - While duplication and deletion of the short arm of chromosome 12 cause well-recognized syndromes, duplication of the long arm of chromosome 12 is rarely observed. The authors are reporting a duplication of chromosome 12 distal to band q24.1 in a five-month-old child. His chromosome constitution is 46,XY,-4,+der(4),t(4:12)(p16;24.1)mat. The balanced translocation is also carried by his maternal grandmother and two of the mother's brothers. The malformation syndrome consisted of unusual facial appearance and anomalies of the musculoskeletal, cardiovascular, genitourinary, and central nervous systems. Four previously reported patients had similar break points on chromosome 12 with similar malformations; therefore, phenotype-karyotype correlation suggests a definitive malformation syndrome associated with duplication of chromosome region 12q24.1→qter.
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U2 - 10.1002/ajmg.1320100408
DO - 10.1002/ajmg.1320100408
M3 - Article
C2 - 7332029
AN - SCOPUS:0019835945
SN - 0148-7299
VL - 10
SP - 357
EP - 365
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 4
ER -