Terminal deletion of the long arm of chromosome 10: Case report and review of the literature

Abstract

We report on a newborn girl with a terminal deletion of the long arm of chromosome 10: del (10)(pter----q26). The phenotypic manifestations are compatible with those of the previously reported cases. In addition, the association with abnormalities of the urinary tract is reported for the first time. A clinical and neurodevelopmental follow-up is described up to age 18 months.

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

“…Patient 2 was included as an interstitial deletion. Anomalies were scored only when Turleau et al, 1979;Taysi et al, 1982;Evans-Jones et al, 1983;Zatterale et al, 1983;Shapiro et al, 1985;Mehta et al, 1987;Fryns et al, 1989;Gorinati et al, 1989;Greenberg et al, 1989;Wulfsberg et al, 1989;Kogasaka et al, 1990;Schrander-Stumpel et al, 1991;Teyssier et al, 1992;Wilkie et al, 1993. b Lewandowski et al, 1978;Mulcahy et al, 1982;Curtis et al, 1986;Vanlieferinghen et al, 1987;Wulfsberg et al, 1989;Schrander-Stumpel et al, 1991;Chung et al, 1998. c Rooney et al, 1989. specific information was available. [Shapiro et al, 1985;Wulfsberg et al, 1989], both of those cases were associated with intracranial pathology: an intracranial hemorrhage and acute hypoxic encephalopathy, respectively.…”

“…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].…”

Pathological Case of the Month

“…These defects, resulting in the impaired valvular mechanism of the ureterovesical junction were surgically corrected by a ureteral reimplantation procedure. 4 Our patient's chromosome deletion, like most of the gross autosomal defects, occurred sporadically and the phenotypic effects were present at the end of the first month of embryonic life. At this time, only supportive therapy is available for chromosome qter deletion syndrome.…”

“…4 At 7 months of age, after repeated urinary tract infections, the patient's evaluation revealed bilateral intrarenal reflux secondary to the absence of the submucosal ureteral tunnels with severe lateral displacement of the ureteral orifices. These defects, resulting in the impaired valvular mechanism of the ureterovesical junction were surgically corrected by a ureteral reimplantation procedure.…”

Follow-up of a familial translocation t(10;16) with an unusual segregation pattern

“…The defects are similar to previously reported cases of trisomy 16p, including microcephaly, cleft palate, tapering fingers, club foot, single umbilical artery, and cardiac defects [LBonard et al, 1992;O'Connor and Higgins, 19921. There is some overlap of features with del( lOq), including microcephaly, heart defects, and urinary tract anomalies [Gorinati et al, 1989;Wulfsberg et al, 19891. Estimating the reproductive risks for balanced translocation carriers is difficult. Most studies have focused on the risk either for producing a liveborn child with an unbalanced karyotype or miscarriage [Neri et al, 1983;Boue and Gallano, 1984;Daniel et al, 1989;Midro et al, 1992;Cans et al, 19931.…”