TY - JOUR
T1 - Trisomy 22
T2 - A clinical entity
AU - Hsu, Lillian Y.F.
AU - Shapiro, Lawrence R.
AU - Gertner, Melvin
AU - Lieber, Ernest
AU - Hirschhorn, Kurt
N1 - Funding Information:
From the Department of Pediatrics, Division o\[ Medical Genetics, Mount Sinai School o\[ Medicine, and the Mental Retardation Research Unit, Letchworth Village. Supported by United States Public Health Service Grant HD-02552. Presented in part at the Annual Meeting o\[ the American Society o\[H uman Genetics, San Francisco, Cali\[ornia, October, 1969.
PY - 1971/7
Y1 - 1971/7
N2 - The constellation of a characteristic facies, mental retardation, growth retardation,microcephaly, micrognathia, preauricular skin tags, appendages and sinuses, low-set and/or malformed ears, congenital heart disease, cleft palate, deformed lower extremities, finger-like malopposed thumbs, cubitus valgus, and abnormal and/or low-set nipples, in association with an extra small acrocentric chromosome, has been described in 3 patients. Each of the mothers had difficulty in conceiving; one was mosaic for trisomy 22. Autoradiographic studies done on 2 of the 3 patients showed the extra small acrocentric chromosome to be early replicating, suggesting that it is a number 22. On the basis of the phenotypic and cytogenetic findings in these and 10 similar patients previously reported, and in conjunction with the autoradiographic results, it is proposed that trisomy 22 is a distinct clinical entity.
AB - The constellation of a characteristic facies, mental retardation, growth retardation,microcephaly, micrognathia, preauricular skin tags, appendages and sinuses, low-set and/or malformed ears, congenital heart disease, cleft palate, deformed lower extremities, finger-like malopposed thumbs, cubitus valgus, and abnormal and/or low-set nipples, in association with an extra small acrocentric chromosome, has been described in 3 patients. Each of the mothers had difficulty in conceiving; one was mosaic for trisomy 22. Autoradiographic studies done on 2 of the 3 patients showed the extra small acrocentric chromosome to be early replicating, suggesting that it is a number 22. On the basis of the phenotypic and cytogenetic findings in these and 10 similar patients previously reported, and in conjunction with the autoradiographic results, it is proposed that trisomy 22 is a distinct clinical entity.
UR - http://www.scopus.com/inward/record.url?scp=0015097306&partnerID=8YFLogxK
U2 - 10.1016/S0022-3476(71)80052-5
DO - 10.1016/S0022-3476(71)80052-5
M3 - Article
C2 - 5091253
AN - SCOPUS:0015097306
SN - 0022-3476
VL - 79
SP - 12
EP - 19
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 1
ER -