A Case of Deletion of the Short Arm of Chromosome 10 with Severe Hearing Loss and Brainstem Dysfunction

Kinoshita, Y; Tanaka, Yasuhiro; Yasuhara, Akihiro; Matsuzaki, Shuji; Kuriki, Hideki; Kobayashi, Yohnosuke

doi:10.1055/s-2007-999245

Cited by 5 publications

(5 citation statements)

References 8 publications

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“…30,34,47,48 Because several patients have been reported at an age before hearing loss might be obvious, and because in other reports no information on this feature is given, we argue that hearing loss might be more common in partial monosomy 10p than reported to date. The deletion breakpoints of patients BIH, MAJ and HOV suggest that gene(s) involved in hearing loss map distal to D10S1705, for which BIH with a terminal deletion is dizygous.…”

mentioning

confidence: 76%

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

et al. 1998

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DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. The critical DGS2 region is defined by two DGS patients, and maps within a 1 cM interval including D10S547 and D10S585. The other seven DGS patients are hemizygous for both loci. The breakpoint of the reciprocal translocation 10p;14q maps at a distance of at least 12 cM distal to the critical DGS2 region. Interstitial and terminal deletions described are in the range of 10-50 cM and enable the tentative mapping of loci for ptosis and hearing loss, features which are not part of the DGS clinical spectrum.

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confidence: 76%

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

et al. 1998

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“…Besides the classical DGS features, these patients present some additional clinical findings. Neurosensory hearing loss has been reported in patients with a deletion in distal 10p [10,18,19]. The triad of hypoparathyroidism, renal malformation, and sensorineural deafness in combination with a 10p deletion has been considered as a new syndrome, named the HDR syndrome [18].…”

Section: Discussionmentioning

confidence: 99%

Partial DiGeorge syndrome in two patients with a 10p rearrangement

et al. 1999

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We describe 2 patients with a partial DiGeorge syndrome (facial dysmorphism, hypoparathyroidism, renal agenesis, mental retardation) and a rearrangement of chromosome 10p. The first patient carries a complex chromosomal rearrangement, with a reciprocal insertional translocation between the short arm of chromosome 10 and the long arm of chromosome 8, with karyotype 46, XY ins(8;10) (8pter 8q13::10p15-->10p14::8q24.1-->8qter) ins(10:8) (10pter--> 10p15::8q24.1-->8q13::10p14-->10qter). The karyotype of the second patient shows a terminal deletion of the short arm of chromosome 10. In both patients, the breakpoints on chromosome 10p reside outside the previously determined DiGeorge critical region II (DGCRII). This is in agreement with previous reports of patients with a terminal deletion of 10p with breakpoints distal to the DGCRII and renal malformations/hypoparathyroidism, and thus adds to evidence that these features may be caused by haploinsufficiency of one or more genes distal to the DGCRII.

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“…We are aware of 22 patients with a partial deletion of the short arm of chromosome 10 (Elliot et al, 1970;Juberg et al, 1981;Oka et al, 1983;Danesino eta[, 1984;Elstner et al, 1984;Koenig et al, 1985;Greenberg et al, 1986;Monaco et aL, 1991;Kinoshita et al, 1992;Obregon et al, 1992;Shapira et al, 1994). In 21 patients the imbalance was de novo: terminal deletion was found in 17 patients and interstitial deletion in four.…”

Section: Discussionmentioning

confidence: 99%

“…However, terminal deletion from p14, which did not have a deletion o f p l 3 by Gbanding technique, also showed no clear-cut distinguishable feature from the , 1984;3, 4~ Obregon et aL, 1992. (b) Cited from the data by Oka et at., 1983;E1stner et af., 1984;Koenig et al, 19851 Greenberg et aL, 1986;Monaco et aL, 1991;Kinoshita et aL, ;992;andShapira eta{., 1994. (r E11iot et al, 1970. others (Table l).…”

Section: Discussionmentioning

confidence: 99%

Interstitial deletion of the short arm of chromosome 10: Report of a case and review of the literature

Kato

Kondo

et al. 1996

Jap J Human Genet

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SummaryThe fifth patient with an interstitial deletion of the short arm of chromosome 10 is described. She showed most of the features observed in other known patients at age 20, including psychomotor retardation, distinct facial dysmorphism, abnormally shaped skull and cardiac malformation, while she did not show any growth retardation. The elevation of serum IgG level was observed from age 15, but she did not show DiGeorge syndrome. These differences would be explained by the differences in the amount of deleted segments using high resolution chromosome banding and molecular methods.

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A Case of Deletion of the Short Arm of Chromosome 10 with Severe Hearing Loss and Brainstem Dysfunction

Cited by 5 publications

References 8 publications

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

Partial DiGeorge syndrome in two patients with a 10p rearrangement

Interstitial deletion of the short arm of chromosome 10: Report of a case and review of the literature

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