COMPLEX CHROMOSOMAL REARRANGEMENT WITH FORMATION OF A RING 4
COMPLEX CHROMOSOMAL REARRANGEMENT WITH FORMATION OF A RING 4
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DOI：
10.1136/jmg.8.2.235
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发表时间：
1971-01-01
影响因子：
4
通讯作者：
CLARKE, G
中科院分区：
文献类型：
--
作者：
BOBROW, M;JONES, LF;CLARKE, G
Ring chromosome formation, though uncommon, is now a well-recognized causeof congenital ano-malies in man. On the basisof early work in other organisms, it is assumed that ring formation in-volves a break in eacharm of the chromosome, with reunion to form a centric ring and an acentric fragment. The latter is subsequently lost, and the phenotype results essentially from deletion of this chromosomal material, complicated by duplications and deficiences arising in somatic cells due to the mitotic instability of ring chromosomes (McClintock, 1938).Case Report The patient (AP) is the only child of healthy parents. The mother was 24 and the father 27 years old at the time of his birth. There is no relevant family history. Because of severe pre-eclamptic toxaemia, labour was induced at about full term. The infant was mature but small, weighing only 1670 g; the placenta appeared healthy but weighed only 396 g. The patient is now nearly 4 years old. His facial appearance at age 2 is shown in Fig. 1. The clinical pic-ture is dominated by extreme growth retardation (Fig. 2). At age 3 years 9 months, he was 75 cm tall, weighed 6-6 kg, and had a head circumference of 40 cm. The head is reasonably in proportion to his body size. The blood urea has been slightly raised since birth, reaching a maximum of 66 mg/100 ml. Intravenous pyelography did not demonstrate any renal pathology, and as the urea level has not been rising, further investigations have not been pursued.
