TY - JOUR
T1 - New anomalies found in the 11q‐ syndrome
AU - Sirota, L.
AU - Shabtai, F.
AU - Landman, I.
AU - Halbrecht, I.
AU - Dulitzky, F.
PY - 1984/12
Y1 - 1984/12
N2 - The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23‐q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 1 lq‐, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.
AB - The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23‐q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 1 lq‐, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.
KW - 11q‐
KW - Atrial septal defect
KW - hydrocephalus
KW - trigonocephaly
KW - urogenital system
KW - ventricular septal defect
UR - http://www.scopus.com/inward/record.url?scp=0021677940&partnerID=8YFLogxK
U2 - 10.1111/j.1399-0004.1984.tb01105.x
DO - 10.1111/j.1399-0004.1984.tb01105.x
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AN - SCOPUS:0021677940
VL - 26
SP - 569
EP - 573
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 6
ER -