Syndactyly type II (SynPolyDactyly; SPD) is an autosomal dominant condition with incomplete penetrance and variable expressivity. Sixty-two meioses from a kindred with 425 individuals were used to map the SPD locus to 2q31 region, approximately 1.7 cM (Lod score = 12.96) centromeric to HOXD8 intragenic marker. Other homeobox-containing genes in this region have previously been ordered as cen-DLX1/DLX2-EVX2-(5' --> HOXD13..HOXD8.HOXD1 --> 3')-tel')-tel. A single recombinant with HOXD8 excluded the most 3' end of HOXD cluster as a candidate site for SPD, but a mutation in the 5' end of HOXD cluster, especially in HOXD13, EVX2 or DLX2/DLX1, may still be responsible for this phenotype. An updated order of D2S142-D2S111-(D2S335/D2S333)-D2S326-D2 S1238-SPD- (HOXD8/D2S1244)-(D2S300/D2S138)-D2S148- D2S324- D2S1384-D2S434 [sequence:see text] was deduced from meiotic recombination events.

As a part of a large-scale work aimed at studying the health effects of boron (B) in residents of a country with the world's largest supply, developmental effects of B are presented. Spontaneous abortions, stillbirths, and congenital malformations in addition to early infant mortality were questioned in the field by home visits. Although the number of families so far ascertained is rather small, the rates related to spontaneous abortions and stillbirths from high B exposure vs low B exposure subpopulations revealed no differences of significance, providing no evidence that B affects human development adversely.

ABSTRACT.Purpose: To document a case of bilateral abortive cryptophthalmos associated with oculocutaneous albinism. Methods: We describe a 13-year-old female patient with blond skin and hair who had anomalous face and eyes first noted at birth. Results: The patient had fair hair and complexion, bilateral anomalous wedge of scalp hair, upper eyebrow and eyelid deformities, cup-shaped ears, broad based nose with depressed bridge and midline groove, iris transillumination and diffuse hypopigmentation and foveal hypoplasia in fundus examination. Conclusion: Based on the clinical and laboratory findings, the reported case represents tyrosinase-positive oculocutaneous albinism together with bilateral abortive cryptophthalmos. The oculocutaneous albinism can either be an entirely new criterion to the whole syndrome of cryptophthalmos, or, more probably, the condition can be due to a double affliction which is primarily related with consanguinity of the parents. The importance of ante-natal diagnosis and genetic counseling are emphasized in such cases where the two recessive genes for two different conditions coexist.

Serum samples from 18 patients with Klinefelter syndrome (age range 20–22 years) and from a control group of 18 age-matched healthy subjects were analyzed for antisperm antibodies by a noncompetitive enzyme-linked immunosorbent assay. The antisperm antibody values were found higher in 5 patients (27.7%) than the level of 150 mU/100 µl which was considered the upper level of the normal range (p < 0.01).