Browsing by Author "Radojković, Z. (6602128383)"

The infant presented was born at term. His weight was 2500 g and length 47 cm. He showed marked hypertelorism, deformed low set ears, short neck, and cleft of hard and soft palates. The mouth was small. The right leg was less well developed and hypoplastic, and there was pes equinovarus. He had hypoxia, had difficulties in adapting to extrauterine life, and died 4 days later. The findings were actue bilateral intra-alveolar bronchopneumonia, massive atelectasis, pulmonary oedema, compensating emphysema, acute hyperaemia, and mild internal hydrocephalus. Analysis of blood lymphocyte chromosomes showed an interstitial deletion (q31→q35) of the long arm of chromosome 2. Both parents had a normal chromosome complement. Taysi et al compared the clinical findings of four reported patients with 2q deletion including their own case. Different regions of the long arm of chromosome 2 were involved. One of these probands was found to have the deletion at 2q31→q33 and another, described by Warter et al, showed a 2q34→q36 deletion. Our proband's breakpoint was at 2q31→2q35. The common features were: intrauterine growth retardation, large malformed low set ears, and abnormalities of the central nervous system. While the CNS anomalies in the reported cases included microcephaly, our proband was found to have internal hydrocephalus of a mild degree, in addition to small head size.

The infant presented was born at term. His weight was 2500 g and length 47 cm. He showed marked hypertelorism, deformed low set ears, short neck, and cleft of hard and soft palates. The mouth was small. The right leg was less well developed and hypoplastic, and there was pes equinovarus. He had hypoxia, had difficulties in adapting to extrauterine life, and died 4 days later. The findings were actue bilateral intra-alveolar bronchopneumonia, massive atelectasis, pulmonary oedema, compensating emphysema, acute hyperaemia, and mild internal hydrocephalus. Analysis of blood lymphocyte chromosomes showed an interstitial deletion (q31→q35) of the long arm of chromosome 2. Both parents had a normal chromosome complement. Taysi et al compared the clinical findings of four reported patients with 2q deletion including their own case. Different regions of the long arm of chromosome 2 were involved. One of these probands was found to have the deletion at 2q31→q33 and another, described by Warter et al, showed a 2q34→q36 deletion. Our proband's breakpoint was at 2q31→2q35. The common features were: intrauterine growth retardation, large malformed low set ears, and abnormalities of the central nervous system. While the CNS anomalies in the reported cases included microcephaly, our proband was found to have internal hydrocephalus of a mild degree, in addition to small head size.