Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter>14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features

Abstract

Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter->14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features

Clinical and cytogenomic characterization of de novo trisomy 9 mosaicism in an Egyptian family: phenotype/karyotype correlation

“…On the contrary, Zhang et al [14] did not find any cardiac abnormality. Furthermore, our male sib had growth retardation and intellectual disability more than that in the female sib, analogous to previous investigators findings [14,15,19]. The incidence and severity of the malformation and the intellectual disability correlates with the percentage of trisomic cell [12].…”

“…Both sibs presented with hypertelorism with downwards slanting of the eyes, similarly, Dhangar et al [15] affirmed hypertelorism in their patient. Although our patients did not have hearing loss, Zhou et al [16] and Dhangar et al [15] described a trisomy 9 patient with sensorineural hearing loss and proposed that 9q13→9q21 region may be responsible for hearing. This may be because the critical region of trisomy 9 in our cases was different.…”

“…Roentgenograms of the skeleton demonstrated hypoplastic pubic bones, and bilateral hypoplastic distal phalanges of the feet, pes valgus and bilateral clinodactly of both 5th fingers [14]. Both sibs presented with hypertelorism with downwards slanting of the eyes, similarly, Dhangar et al [15] affirmed hypertelorism in their patient. Although our patients did not have hearing loss, Zhou et al [16] and Dhangar et al [15] described a trisomy 9 patient with sensorineural hearing loss and proposed that 9q13→9q21 region may be responsible for hearing.…”

“…The range and severity of the phenotype relies on the percentage of cells with extra chromosome 9 [15]. Speech development was severely retarded in the proband but was milder in his sister, Gulten et al [21] and Bruns and Campbell [19] noted delay in language, communication and social-emotional development.…”

An Unbalanced Product Due to a Maternal Reciprokal Adjacent-2 Segregation Case With Dicentric Partial Trisomy 9

“…FISH analyses were carried out for both the proband and the mother using the centromere, telomere (9p: pVYS234B, 9q: pVYS235B) and whole chromosome painting probes of Chr. A partial trisomy 9 case with dicentric chromosome İstanbul Tıp Fakültesi Dergisi • J Ist Faculty Med were reported (Table 1) (3,(5)(6)(7)(8)(9). In those cases, the phenotypic effects of the concomitant partial monosomy/trisomy could not be excluded.…”