Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1

Abstract

In this paper we describe two new patients with distal 1 l q monosomy and precisely localize breakpoints using high resolution banding techniques. The findings in these two patients further contribute to the precise localization of the crucial band for 1 Iq monosomy syndrome as being at 1 lq24.1. A very distal 1 lq24.2 deletion in the second patient resulted in a completely different phenotype.

Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay

“…Their deletions lie within the region that is commonly deleted in patients with JBS. 13 It seems that the patients with larger deletions in 11q show a more severe phenotype, but this may vary among patients. For example, most patients with JBS have Paris-Trousseau syndrome (PTS), but only 56% of them have congenital heart disease, and this phenotype is independent of the size of their 11q deletion.…”

Structural Genome Variations Related to Craniosynostosis

“…Subsequent karyotyping with improved resolution of other patients allowed to exclude band 7p15 and to subsequently narrow down the locus for craniosynostosis to subband 7p21.1 [Bianchi et al, 1981;Fryns et al, 1985;Marks et al, 1985;Motegi et al, 1985;García-Esquivel et al, 1986;Schömig-Spingler et al, 1986;Speleman et al, 1989;Zackai and Stolle, 1998]. Similarly, loci for craniosynostosis on chromosome arms 2q, 5q, 9p, 11q, 14q, 17p, 17q, and 19p have been identified [Rutten et al, 1978;Lippe et al, 1980;Fryns et al, 1986;Stratton et al, 1986;Lucas et al, 1987;Lewanda et al, 1995;Thomas et al, 1996;Lemyre et al, 1998;Shiihara et al, 2004;Lyon et al, 2015]. These findings indicate that several genes may be involved in regulating proper closure of cranial sutures during development.…”

The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature

“…Band 11q24.1 has been suggested to be the critical region responsible for the typical features of the syndrome. 7,8 This is supported by cases in which an 11q24.2-qter deletion was not associated with features characteristic of Jacobsen syndrome. 7,9 Interstitial deletions proximal to 11q24.1, but involving 11q23, have also produced some of the features but a different overall phenotype.…”

“…7,8 This is supported by cases in which an 11q24.2-qter deletion was not associated with features characteristic of Jacobsen syndrome. 7,9 Interstitial deletions proximal to 11q24.1, but involving 11q23, have also produced some of the features but a different overall phenotype. 3,9,10 Ocular abnormalities most commonly associated with the 11q deletion disorder include telecanthus and/or hypertelorism, ptosis, epicanthal folds, and strabismus.…”

“…Our patient had bilateral ptosis, but both bilateral and unilateral cases have been documented without association to a specific breakpoint. 7,11,13,23 It is seen with breakpoints as proximal as 11q22 and as distal as 11q25, suggesting a possible candidate region near the end of the chromosome.…”