Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25.

Abstract

Complex translocation involvi'ng chromosomes Y, 1,I and 3 resulting in deletion of segment 3q23--*q25The proband was the first child of non-consanguineous parents. He has a younger, phenotypically normal sister. Birth weight was 1-9 kg and he had respiratory distress at birth. Psychomotor development was delayed. His height and weight were on the 3rd centile and his head circumference was below the 3rd centile. He started to walk at 2½1/ years and could say a few words at 3½1/ years. 10 was assessed to be around 75 to 80.The proband had microbrachycephaly, a flat occiput, depressed supraorbital ridges, and flat nasal bridge. Palpebral fissures were narrow and upward slanting. There

De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder

“…According to our knowledge, this case is the second showing interstitial deletion of band q14 in the long arm of one chromosome 6 [Passarge, 2000] and the first case showing interstitial microdeletion for 6q14.1 described. Only a few cases of CCR associated with interstitial deletion have been reported: 14q13q22 [Buchanan et al, 1978], 12p12.3 [Magenis et al, 1981], 11p13p14 [Turleau et al, 1981], 8q24.11q24.13 [Schwartz et al, 1985], 3q23q25 [Al-Awadi et al, 1986]. The phenotypic abnormalities and psychiatric disorder associated with such a rearrangement are attributed mainly to the effect of the deleted segment.…”

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

“…Based on this analysis, we propose the diagnosis of WS to be made based on the occurrence of at least four out of five core gestaltic features (coarse facies; prominent or wide triangular shaped nasal tip; high arched or upsweeping eyebrows; full/everted lower lip; bushy eyebrows often with synophrys). Accordingly, we diagnosed 12 patients with WS [6,9,22,23,25-29] and compared them with 15 patients who did not match the proposed criteria [7,8,12,16-18,30-37] (Table 1 and Additional file 1: Table S1). Among this second group, the occurrence of each gestaltic feature was much rarer than in the WS group.…”

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23

“…The maculae and retinal vessels were normal. Niikawa et al [19821 Niikawa et al [19821 dirins(ll ;2)(pl3;q12q23) Ionasescu et al [19871 rec (l6)dup(pl3.l~p13.3) sents the smallest of all reported chromosome 3q deletions [Al-Awadi et al, 1986;Alvarado et al, 1987;Brueton et al, 1989;Franceschini et al, 1983;Fujita et al, 1992;Jokiaho et al, 1989;Martsolf and Ray, 1983;Naguib et al, 1990;Okada et al, 1987;Williamson et al, 19811. It is striking to note that 5 ofthese cases have blepharophimosis and ptosis and an interstitial deletion of 3q, specifically involving bands 3q22 and 3q23 (Table 11).…”