Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Abstract

Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have been described as "contiguous gene syndromes." Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and an X-linked non-specific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

“…In a very recent publication, Kent et al (2008) described an association between STS deficiency and attention deficit hyperactivity disorder (ADHD). Sporadic cases of STS deficiency with additional features due to a deletion of contiguous genes have also been reported (Ballabio et al, 1989;Bick et al 1989;Klink et al,1994;Muroya et al, 1996;Weissörtel R et al, *Correspondence to: Sylvie Langlois, Medical Genetics, University of British Columbia, C234, 4500 Oak Street, Vancouver, BC, Canada V6H 3N1. E-mail: slanglois@cw.bc.ca † Presented at the 14th Meeting of the International Society of Prenatal Diagnosis, Vancouver, June 1-4, 2008. 1998; Gohlke et al, 2000).…”

Investigação clínica e genética em meninas com baixa estatura idiopática

“…O conhecimento de que perdas terminais dos braços curtos dos cromossomos sexuais X e Y apresentam baixa estatura como um sinal clínico constante levou vários pesquisadores a concentrarem nessa região a pesquisa de um ou mais genes envolvidos na etiopatogenia da baixa estatura (3)(4)(5)(6)(7). Em 1997, foi seqüenciado o gene SHOX (short stature homeobox containing gene), localizado na região pseudoautossômica dos braços curtos dos cromossomos X (Xp22.3) (figura 1) e Y (Yp11.3) (5,8).…”

The Frequency and Types of Chromosomal Aberrations in the Patients with Hypogonadism

“…Primary hypogonadism is more common in boys than in girls because the incidence of Klinefelter syndrome (KS) is higher than the incidence of the equivalent condition for girls, Turner syndrome (TS) [1]. Hypogonadotrophic hypogonadism (HH) in men occurs more rarely.…”