According to the internationally accepted classification (Tanner, 1962; van Wieringen, 1971), sexual maturation was investigated in 8703 healthy East German girls by means of the status quo method and probit regression analysis. The third, 50th and 97th centiles were calculated for the development of breasts, axillary and pubic hair, and the shape of the hips. The findings were compared with those of recent studies from different European countries. Special attention was paid to the stages at the beginning and at the end of sexual maturation, e.g. B2/B5, AH2/AH3, etc.
We report on cases of Greig syndrome segregating in a large kindred over four generations due to reciprocal translocation t(6;7)(q27;p13) and on a patient from this pedigree with a severe malformation syndrome due to duplication 7(p13----pter). The clinical findings are discussed as possible consequence of a gene mutation due to the break at 7p13.
To identify by reverse 1enetics genes on the short arm of human chromosome 7 ex~ted to ~ involved b:a the regulation of human craniofacial and limb development, we have set up a human mouse somatic cell hybrid panel that divides 7p into 9 fragments. The breakpoints are defined by deletions or translocations involving one chromosome 7 in the cells of the human cell fusion partners. Particularly densely covered with these cytogenetic anchor points is the proximal area of 7p within and around 7p13. The number of cytogenetic mapping points within proximal 7p could be increased by four, using two diploid human celllines with small interstitial deletions in this region for dosage studies. We used Southern blots oftbis panel to assign to 7 q or subregions of 7p more than 300 arbitrary DN A probes or genes that provide reference points for physical mapping of 7p. Three reciprocal translocations with one of the breakpoints in 7pl3 mark tbe location of a gene involved in Greig cephalopolysyndactyly syndrome. To deftne an area in wbich we could identify candidatel fortbis developmental gene, we established a macrorestriction map using probe& ftanking the putative gene region. The Greig translocations were found tobe located within a 630-kb Notl restriction fragment.
According to the internationally accepted classification, sexual maturation was investigated in 8685 healthy East German boys by means of the status quo method and the probit regression analysis. The 3rd, 50th and 97th centiles were calculated for the development of both the male external genitalia and pubic and axillary hairs. The findings are in line with those of recent studies from different European countries. Special attention was paid to the stages at the beginning and at the end of sexual maturation, e.g. B 2, B 5; AH2, AH3; PH 2, PH5/6, etc.
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