TY - JOUR
T1 - Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1)
AU - Wiktor, A.
AU - Van Dyke, D. L.
AU - Weiss, L.
PY - 1993
Y1 - 1993
N2 - We describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In situ hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47,XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48,XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each supernumerary ring chromosome, may have played a role in perturbing the normal developmental process of this patient.
AB - We describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In situ hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47,XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48,XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each supernumerary ring chromosome, may have played a role in perturbing the normal developmental process of this patient.
KW - X chromosome
KW - chromosome 17
KW - in situ hybridization
KW - neurofibromatosis
KW - ring chromosome
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U2 - 10.1002/ajmg.1320450108
DO - 10.1002/ajmg.1320450108
M3 - Article
C2 - 8418653
AN - SCOPUS:0027506860
SN - 0148-7299
VL - 45
SP - 22
EP - 24
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 1
ER -