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Experience in a Growth and Development Clinic Chromosomal Defects
Author(s) -
COSTELLO J. M.,
IBBERTSON H. K.,
SCOTT D. J.
Publication year - 1978
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1978.tb02997.x
Subject(s) - medicine , chromosomal abnormality , abnormality , chromosomal analysis , inguinal hernia , sex organ , pediatrics , chromosome , hernia , karyotype , surgery , genetics , psychiatry , gene , biology
Experience in a growth and development clinic. Chromosomal defects. Of 908 children seen at a growth and development clinic over an 11 1/2‐year period almost 4% were found to have a chromosomal defect. Most of these defects involved the X chromosome. There were 11 females with 45,X abnormality and 12 with other X chromosomal defects. The latter were diagnosed at a later age because their physical features were less obvious than those of the 45,X patients. The findings indicate the need to carry out chromosomal studies on all short females. Additional indications for such studies include females with inguinal hernia, males with small testes or unexplained mental retardation, males or females with genital abnormalities and, occasionally, children with unusual facial appearance or unexplained physical defects.