Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

Abstract

We report a 2(3/12)-year-old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2) de novo. Clinical manifestations in this patient included failure to thrive, psychomotor retardation, mild facial dysmorphic features, and long and slender fingers and toes. The precise location and extent (9.5 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 19 YAC and BAC clones. Comparison of the present patient with six other patients with deletions of chromosomal bands 5q22-5q31 allowed further delineation of a constitutional del5q22q31 syndrome. The main features of this syndrome are psychomotor retardation, failure to thrive, hypotonia, hypoplastic muscles, cleft or high arched palate, low-set and dysplastic ears, flat nasal bridge, downslanting palpebral fissures, hypertelorism, anteverted nostrils, and micro- and/or retrognathia.

Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

“…Although a number of chromosomal aberrations have been described [Bennett et al, 1997;Tzschach et al, 2006, Heald et al, 2007Casper et al, 2014], analysis of the consequences tends to focus on the resulting dysmorphic features or FAP without imparting function to single genes. Large deletions within the chromosome itself present with a complex phenotype, combining several clinical features from those mentioned above and can be a challenge for the diagnosing clinician.…”

Genotype–phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects

“…The common breakpoints of the interstitial 5q deletions were q15q31, q15q22 (or q15q21), q22q31, q23q31 and q22q23 (Table 1) (Courtens et al, 1998;Garcia-Miñaur et al, 2005;Harréus and Issing, 2002;Kadotani et al, 1984;Kobayashi et al, 1991;Lindgren et al, 1992;Rivera et al, 1987Rivera et al, , 1990Tzschach et al, 2006). Lindgren et al (1992) Fig.…”

“…categorized interstitial 5q deletions into "proximal deletions" encompassing the q15 to q22 region and "distal deletions" encompassing the q22 to q31 region according to the characteristics of the phenotype. Tzschach et al (2006) further delineated a constitutional del5q22q31 syndrome. The main features are psychomotor retardation, failure to thrive, hypotonia, hypoplastic muscles, a cleft or high arched palate, low-set and dysplastic ears, a flat nasal bridge, downslanting palpebral fissures, hypertelorism, anteverted nostrils and micro-and/or retrognathia.…”

“…Clinical findings in cases with interstitial 5q deletions, reference to the criteria of both Courtens et al (1998) and Tzschach et al (2006) …”

“…It is difficult to accurately cytogenetically determine the deleted segment and the breakpoints because the banding pattern of the long arm of chromosome 5 is repetitious and it has three G-positive metaphase bands of almost equal size (q14, q21 and q23) (Courtens et al, 1998;Garcia-Miñaur et al, 2005). So far, 40 or more such cases have been reported and only a few cases have been analyzed by molecular cytogenetic methods (Tzschach et al, 2006). We experienced a newborn with de novo interstitial deletion of the region 5q22.3 to 5q31.2 by using high resolution multicolor banding and array comparative genomic hybridization (CGH), and we compared the genotype-phenotype correlation with the previously reported similar cases of interstitial deletion of 5q.…”