Karyotyping analysis of 396 newborns with congenital malformations and chromosomal abnormalities and the associated phenotypes

Abstract

Objective To reveal the chromosome abnormalities and their relationship with the clinical phenotype of neonates with congenital malformation. Methods Karyotype analysis of peripheral blood lymphocytes was performed on 396 newborns with congenital malformation, who were recruited at the Children's Hospital Affiliated to Soochow University from Jan.2006 to May 2012, chromosome karyotypes were prepared with neonatal peripheral lymphocytes by conventional G-banding technique. Results 1.Of 396 newborns, 159(40.2%) cases were detected to have chromosomal abnormalities, including karyotype first reported domestically and internationally in 3 cases.2.Trisomy-21(Down's syndrome), which was the most common abnormal karyotype, was seen in 130 cases, accounting for 81.8%, of whom 119 cases show the standard type, 10 cases accompanied by the Robertsonian translocation involving group D or group G, and 1 case accompanied by sexual chromosomal abnormality: inv(Y)(p11q11), + 21.3.Other common kar-yotype abnormalities were as follows: del(5)(p12-14)(cats cry syndrome) in 4 cases, trisomy-18(Edwards syndrome) in 4 cases, 45, XO(Turner's syndrome) in 4 cases, inv(9)(p11q12-21) in 4 cases, trisomy-X(super female syndrome) in 1 case, rob(13; 14) in 1 case, trisomy-8 in 1 case and del(18)(q22) in 1 case.4.Special faces were seen in 147 cases(92.5%), congenital heart disease in 97 cases(61.0%), low birth weight in 72 cases(45.3%), congenital anal atresia in 13 cases(8.1%), multiple malformations in 11 cases(6.8%), intestinal malformations in 10 cases(6.2%), extrinsic genital abnormalities in 9 cases(5.7%), meow-like cry in 4 cases(2.5%), limb edema in 4 cases(2.5%), fingers and toe abnormalities in 6 cases(3.6%), congenital brain dysplasia in 6 cases(3.6%), webbed neck in 5 cases(3.1%) and cleft lip and palate in 3 cases(1.8%). Conclusions Chromosomal abnormality is an important factor leading to neonatal birth defects, of which special face, congenital heart disease, low birth weight, and multiple malformations are the main clinical manifestations of chromosomal diseases. Key words: Karyotype; Chromosomal abnormalities; Clinical phenotype; Infant, newborn