Skeletal Dysplasia in an Infant With Hypertelorism, Hypospadias, Developmental Delay, and a Complex Chromosomal Translocation

B, Say; Nj, Carpenter

doi:10.1097/00007611-198708090-00029

Cited by 3 publications

(2 citation statements)

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“…The data for the literature cases were derived from published reports and photographs. However, data were not included for patients with OS and a cytogenetic abnormality [Say and Carpenter, 1987; Christodolou et al, 1990; Leichtman et al, 1991;Verloes et al, 1995; Urioste et al, 19951. As was done with the cases from this study, data from the literature cases were recorded as present or absent based on whether the anomaly was reported, or could be ascertained through the published photographs. If there was uncertainty, no entry was made for that manifestation.…”

Section: Results Bmentioning

confidence: 99%

Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22Q and a review of the literature

1996

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Opitz G/BBB syndrome (OS) was first described in 1969 as two separate disorders, the G syndrome, and the BBB syndrome. Since the time, it has become apparent that the BBB and the G syndromes are in fact a single entity, now named the Opitz G/BBB syndrome. However, our recent molecular genetic mapping studies have shown that OS is an heterogeneous disorder, with loci at Xp22 and 22q. To determine if there are any discernible phenotypic differences between the X‐linked and the autosomal dominant forms of OS, we have conducted a clinical study of the families who participated in the linkage analysis. In addition, we compared the clinical findings in the study families with those who have been reported in the literature. We found that anterveted nares and posterior pharyngeal cleft were seen only in X‐linked families. However, all other manifestations of OS, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both groups. Therefore, while OS is heterogenous, significant clinical overlap is present between the two groups, and it is presently impossible to assign a specific phenotype to the X‐linked or the autosomal type of OS. Furthermore, we found that for individuals in our study families who carried the OS allele, the incidence of major abnormalities was lower than what is reported in the literature. © 1996 Wiley‐Liss, Inc.

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Section: Results Bmentioning

confidence: 99%

Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22Q and a review of the literature

1996

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“…The genitalia were small and the patient had cryptorchidism, hypertelorism and clinodactyly of the fifth fingers. Say and Carpenter [1987] also described a male infant with multiple congenital abnormalities, firstdegree hypospadias, hypertelorism, cleft lip and palate, imperforate anus and mental retardation, leading the authors to suggest that he may have had the BBB syndrome. Cytogenetic investigations demonstrated a complex balanced translocation with a breakpoint at 8q22.…”

Section: Discussionmentioning

confidence: 99%

Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13

et al. 1997

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A de novo apparently balanced translocation involving chromosomes 8 and 20 was found in a 14-year-old boy with minor anomalies, mild skeletal abnormalities and ambiguous external genitalia including perineoscrotal hypospadias, rudimentary fused labioscrotal folds, bilateral cryptorchidism, and small penis. The karyotype was 46,XY, t(8;20)(q22.3-23;p13). No signs of other conditions known to be associated with structural anomalies of either chromosome 8 or 20 were present and incomplete masculinisation of the external genitalia appears to be the main component of the phenotype. Clinical and biological studies showed apparently normal testicular function in utero and after birth. Examinations excluded 5 alpha-reductase deficiency or a block in any enzymatic steps of testosterone, glucocorticoid and mineralocorticoid biosynthesis. Coding sequences of the sex-determining gene (SRY) and androgen receptor gene (AR) were found to be identical to those of a normal male excluding their role in the cause of the present condition. Since several other reports describe the association of hypospadias and hypertelorism with deletions or translocations involving 8q, we suggest that a locus necessary for male sex differentiation is located at distal 8q.

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Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations

1997

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We report an unusual case of a balanced reciprocal translocation with a recombinant chromosome which has arisen from a familial balanced complex translocation. Fluorescence in situ hybridization studies were essential for the identification of the breakpoints. A review of 60 cases of balanced complex translocations (BCT) has revealed three cases similar to ours. Carriers of BCT have a high risk of having spontaneous abortions or a child with an unbalanced karyotype. Certain types of balanced rearrangements involving an insertion can give rise to a simpler balanced translocation as a result of crossover. Our observations support the assumption that the chance that a de novo balanced complex translocation is associated with an abnormal phenotype increases with the number of breakpoints.

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Skeletal Dysplasia in an Infant With Hypertelorism, Hypospadias, Developmental Delay, and a Complex Chromosomal Translocation

Cited by 3 publications

References 0 publications

Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22Q and a review of the literature

Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22Q and a review of the literature

Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13

Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations

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