Two rare cases of 6p partial deletion

Abstract

Two rare cases of 6p partial deletion (6p23-rpter) are described. Both patients are at or past the adolescent stage, with severe mental retardation and severe to moderate developmental retardation. Physical dysmorphic features that stand out are: short forehead, borderline microcephaly, low-set malformed ears, hyperplastic nares, dental anomalies and short terminal phalanges. The diversity of the phenotypic features has considerable variations in patients with ring of 6, apparently reflecting the relative loss of p and q arms. A case of a larger terminal deletion and a report of an interstitial deletion is also reviewed.

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“…She clearly has eye and hearing involvement, but does not have a cleft lip or palate. Orofacial clefting has not always been present, despite the involvement of the locus at 6p24.3 [Jalal et al, 1989; Palmer et al, 1991]. Furthermore, even when this locus is involved the manifestations may be mild (e.g., absent uvula) [Davies et al, 1999b].…”

“…There have been approximately 30 reports of individuals with a deletion of the short arm of chromosome 6 [Ouchi and Kasai, 1982; van Swaay et al, 1988; Jalal et al, 1989; Kormann‐Bortolotto et al, 1990; Zurcher et al, 1990; Palmer et al, 1991; Plaja et al, 1994; Alashari et al, 1995; Law et al, 1998; Davies et al, 1999a,b; Topping et al, 2002], making such a finding a relatively rare event. The 6p22‐pter segment is the most commonly affected region, with breakpoints at 6p22.2, 6p23, 6p24.2, and 6p25.1 being relatively frequently encountered [Alashari et al, 1995; Davies et al, 1999b].…”

“…Prominent features include developmental delay, hypertelorism, downslanting palpebral fissures, eye anterior chamber abnormalities, malformed ears, hearing loss, and heart defects [Palmer et al, 1991; Davies et al, 1999b]. The majority of patients have developmental delay and significant cognitive impairment [Jalal et al, 1989; Davies et al, 1999b]. In order to further define the phenotypic spectrum associated with chromosome 6p deletions, we describe a child with delayed gross motor milestones, but normal cognitive development.…”

Dirençli epilepsi olgusunda mozaik ring kromozom 6 ve klinik önemi

“…However, the main significant findings in our patient included epilepsy and mental retardation. Jajal et al (7) reported that the phenotypic properties caused by chromosome 6p deletion may be similar to the phenotype caused by ring chromosome 6 (7,8). However, Kara et al (3) showed that de novo mosaic ring chromosome 6 and deletions occuring at the end of chromosome 6q caused different clinical pictures.…”

“…Very significant dysmorphic characteristics are present in most chromosamal disorders associated with epilepsy (3). We presented a 7-year old male patient who was referred to our clinic because of resistant epilepsy and whose chromosomal analysis on peripheral blood revealed mos 47,XY,+r (6)[3]/ 46,XY, r (6)[40]/ 45,XY,-6 [7]. Based on this case we aimed to discuss the significance of use of cytogenetic techniques and multidiciplinary study in understanding clinical and basic mechanisms of epilepsy.…”