Terminal deletion of chromosome 10q26 due to a paternal translocation {(7;10)(q36;q26)}

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases

“…A number of authors have suggested that a more proximal deletion of 10q leads to more significant congenital abnormalities, particularly where it involves the region 10q25 [Wegner et al, 1981;Wulfsberg et al, 1989]. Signals were detected for both YACs for case 13, placing the breakpoints for an interstitial deletion Lewandowski et al, 1978Wegner et al, 1981Mulcahy et al, 1982Wulfsberg et al, 1989Petersen et al, 1998Turleau et al, 1979Shapiro et al, 1985Mehta et al, 1987Gorinati et al, 1989Borovik and Brunoni, 1991 within this region of q25.2q26.1. However, no genes were identified as being likely candidates to explain cardiac anomalies.…”

“…Congenital abnormalities associated with monosomy for this region have been described in reports by several authors. These include anomalies of the renal tract [Sparkes et al, 1978;Simoni et al, 1979;Tsukino et al, 1980;Michels et al, 1981;Serville et al, 1982;Kondo et al, 1984;Gorinati et al, 1989;Borovik and Brunoni, 1991], cryptorchidism [Tanabe et al, 1999;Waggoner et al, 1999], congenital heart disease [Wegner et al, 1981;Wulfsberg et al, 1989], and limb abnormalities [Lewandowski et al, 1978;Wegner et al, 1981;Wulfsberg et al, 1989]. Unusual behavior has also been cited in the literature and is characterized by disruptive behavior [Mehta et al, 1987;Schrander-Stumpel et al, 1991;Petit et al, 1998, Waggoner et al, 1999 and affectionate behavior [Turleau et al, 1979;Mehta et al, 1987;Leonard et al, 1999].…”

Partial monosomy of distal 10q: Three new cases and a review

“…Specific urinary anomalies reported include bilateral intrarenal reflux due to a congenital anomaly of the ureterovesical junction [Gorinati et al, 1989] and bilateral hydronephrosis with unilateral megaureter and small kidney on the opposite side. Urinary tract anomalies have been reported more frequently in cases of deletion 10q associated with translocation or other chromosome anomaly [Borovik and Brunoni, 1991].…”

Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies

“…Some clinical features found in one of these children (mental retardation, microcephaly, hypertelorism, strabismus, and malformed ears) were also reported in the only published case with der(10)t(7;10)(q36;26). 61 …”