Naomi Fitch

Classification and identification of inherited brachydactylies

A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-1 can be characterised by a proportionate reduction of the middle phalanges. Type B is thought to be an amputation-like defect. In type C the fourth middle phalanx is usually the longest, and type E (Riccardi and Holmes, 1974) is characterised by short metacarpals and short distal phalanges. Short stature is usually present in type A-1 and type E brachydactyly (Riccardi and Holmes, 1974) and it may be present in some individuals with brachydactyly C. As short children have short hands, it is possible that in patients with very mild expressions of brachydactyly the cause of the short stature may be overlooked. It is suggested that in every child with proportionate short stature the hands should be carefully examined. If the hands are disproportionately short, if any distal creases are missing, if there is a shortening, however mild, of any finger, if any metacarpals are short, then it is important to have ϰ-rays to look for brachydactyly A-1, C, or E. Much information is still needed. It is important in future reports to have skeletal surveys, pattern profile analyses, and to note the height of children with brachydactyly C. Most interesting of all will be when fetal limbs of each type become available for study.

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

SummaryTwo sisters with premature menopause and a small deletion of the long arm of one of their X chromosomes [del (X)(pter→q26.3:)] were investigated with polymorphic DNA probes near the breakpoint. The deleted chromosome retained the factor IX (F9) locus and the loci DXS51 (52A) and DXS100 (pX45h), which are proximal to F9. However, the factor VIII (F8) locus was not present, nor were two loci tightly linked to this locus, DXS52 (St14) and DXS15 (DX13) This deletion refines the location of the F9 locus to Xq26 or to the interface Xq26/Xq27, thus placing it more proximally than has been previously reported. The DNA obtained from these patients should be valuable in the mapping of future probes derived from this region of the X chromosome.

A familial syndrome of cranial, facial, oral and limb anomalies.

A family is described in which two male infants have microcephaly, abnormal ears, anti‐mongoloid slant, small mouth, cleft palate, flexed overlapping fingers with syndactyly of digits three and four, syndactyly of the second to the fifth toes, and normal karyotype. This seems to be a new syndrome.

Adducted thumb syndromes

The adducted thumbs syndrome is characterized by cleft palate, microcephaly, and dys‐myelination. A fifth case of this syndrome is presented. Several other syndromes which may present with adducted thumbs are reviewed and re‐assessed. The original contributions consist of discussions of (1) the possible pathogenesis of adducted thumbs in the congenital clasped thumb syndrome and in sex‐linked hydrocephalus, (2) the genetic heterogeneity of the clasped thumb syndrome, and (3) the significance of adducted thumbs as a possible marker in sex‐linked hydrocephalus.

Progressive partial lipodystrophy and third-trimester intrauterine fetal death

Abstract Women with progressive partial lipodystrophy often have a high risk for third-trimester uterine death.

Y chromosome R-bands.

We were most interested in the publication by Cohen et al. (1983) which appeared in this journal. In a similar azoospermic patient, using CBG, GTG, and RHG techniques, we have been able to show on late prophase chromosomes that not only the complete heterochromatic segment was absent but also some euchromatic bands (Fitch et al. to be published). With the RHG-banding technique (Dutrillaux and Lejeune 1971) which we have adapted to prophase chromosomes (Richer et al. 1983a), the R-bands in the short arms of chromosome Y are more darkly stained than the adjacent R-bands in the long arm (Figs. 1 and 2). This is also the case, most of the time, with R-bands produced by fluorescence-photolysis-Giemsa, after bromodeoxyuridine (BrdU) incorporation (RB-FPG) (Gagn6 1980) (Fig. 1). Furthermore the size of the Yp, after R-banding, is not negligible; it contains two important R-positive bands and also a small one that is R-negative (G-positive). Thus according to our idiogram of RHG-banded chromosomes (Fig. 2), what Cohen et al. (1983) consider to be the long arms of their R-banded deleted Y chromosome are most likely the short arms. We would like to suggest that this patients deletion may comprise more than the heterochromatic region and that the missing euchromatin is probably responsible for the patients abnormalities.