TY - JOUR
T1 - Penta X syndrome
T2 - A case report with review of the literature
AU - Kassai, R.
AU - Hamada, I.
AU - Furuta, H.
AU - Cho, K.
AU - Abe, K.
AU - Deng, H. X.
AU - Niikawa, N.
PY - 1991
Y1 - 1991
N2 - We describe a 6 month-old girl with a 49, XXXXX chromosome constitution. The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly of the fifth fingers, overlapping toes, and separation between the first and the second toes. She also had atrial septal defect and patent ductus arteriosus complicated by myocarditis which exacerbated the course of her congestive heart failure. Psychomotor development was retarded with opisthotonoid posture, axial hypotonia, and with a borderline abnormal EEG. A densitometric, transmission analysis on X-linked polymorphic DNA-fragments of the Southern blots of the patient and the parents, using P20/MspI and pERT87-1/XmnI as probe/enzyme combinations, showed that the pentasomy X had resulted from 3 successive nondisjunctions at maternal meiosis. Clinical manifestations among 22 previously reported penta X syndrome patients are also reviewed.
AB - We describe a 6 month-old girl with a 49, XXXXX chromosome constitution. The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly of the fifth fingers, overlapping toes, and separation between the first and the second toes. She also had atrial septal defect and patent ductus arteriosus complicated by myocarditis which exacerbated the course of her congestive heart failure. Psychomotor development was retarded with opisthotonoid posture, axial hypotonia, and with a borderline abnormal EEG. A densitometric, transmission analysis on X-linked polymorphic DNA-fragments of the Southern blots of the patient and the parents, using P20/MspI and pERT87-1/XmnI as probe/enzyme combinations, showed that the pentasomy X had resulted from 3 successive nondisjunctions at maternal meiosis. Clinical manifestations among 22 previously reported penta X syndrome patients are also reviewed.
KW - congenital heart disease
KW - multiple congenital anomalies and mental retardation (MCA/MR)
KW - myocarditis
KW - parental origin of pentasomy X
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U2 - 10.1002/ajmg.1320400110
DO - 10.1002/ajmg.1320400110
M3 - Article
C2 - 1887850
AN - SCOPUS:0025912632
VL - 40
SP - 51
EP - 56
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -