Case 1

In one case reported in 1982, either an incestuous mating or a chromosome 4 maternal isodisomy could account for homozygosity for a familial chromosome 4 pericentric inversion [inv(4)(p15.2!q12)], in a female whose mother was a heterozygous carrier (Carpenter et al., 1982). This African-American girl, weighing 1930 gm at birth, showed at 4 years 8 months, height and weight at the third percentile, normal head circumference, craniofacial dysmorphism (prominent forehead, mild dolichocephaly, large earlobes, deep-set eyes, broad nasal bridge, pointed chin), long slender extremities, poor muscle mass, jerky movements, and a flat-footed gait. Gross and fine motor skills were delayed; she had walked at 3 years and her language was that of a 1-year-old. Moderate sensorineural deafness was noted. On both her chromosomes 4, there was an inversion of segment p15.2-q12, inherited from the heterozygous mother. The father was not available for study but consanguinity was denied. The authors considered the homozygosity of recessive alleles or the existence of a submicro-scopic deletion at the inversion breakpoint(s) (Carpenter et al., 1982).

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