Distal deletion of the short arm of chromosome No. 10: A case report

Oka, Shigehiro; Nakano, Hiroyuki; Yokochi, Tsunehiro; Ueda, Ken; Saito, Akihiro

doi:10.1007/bf01876793

Cited by 3 publications

(4 citation statements)

References 6 publications

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“…The propositus (w-3) had manifestations comparable to those previously described. His clinical findings are compared to those previously reported for infants with deletion lop in Table I [ Elliott et al, 1970;Francke et al, 1975;Shokeir et al, 1975;Berger et al, 1977;Prieto et al, 1978;Jackson et al, 1978;Klep de Pater et al, 1981;Fryns et al, 1981;Juberg et al, 1981;Bourrouillou et al, 1981;Bridgman and Butler, 1980;Slinde and Hansteen, 1982;Oka et al, 1983;Sanchez-Corona et al, 1983;Gencik et al, 1983;Suciu and Nanulescu, 1983;H e r d et al, 1984;Elstner et al, 1984;Rethore et al, 1985;Koenig et al, 1985;Greenberg et al, 1986;Monaco et al, 1991;Lai et al, 19923. It can be difficult to determine the exact breakpoints of the translocation.…”

Section: Discussionmentioning

confidence: 74%

Family with partial monosomy 10p and trisomy 10p

1995

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We report on a family with an abnormality of 10p. The propositus has monosomy for the distal region of 10p and severe psychomotor delay, growth failure, congenital heart defect, multicystic kidney, grade V vesicoureteric reflux, and neurosensory hearing loss. The mother and the elder brother of the propositus carry a balanced reciprocal translocation (5q;10p)(q35.3;p12.3). A retarded and epileptic maternal aunt was found to have dup(10p). Study of the family history led to the successful obstetric management of a subsequent twin pregnancy in which an affected fetus with dup(10p) was identified and selectively terminated, while the other normal twin was delivered at term without problems.

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Section: Discussionmentioning

confidence: 74%

Family with partial monosomy 10p and trisomy 10p

1995

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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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“…Since a probable case of partial monosomy of the short arm of chromosome 10 was initially described by Elliot et al, 1 only 18 other cases have been reported in the world literature. 2 - 17 The phenotype has been variable and there is no pathognomonic manifestation, but the pattern of craniofacial manifestations, such as downslanting palpebral fissures, ear abnormalities, genitourinary tract abnormalities, other stigmata degenerationis, and psychomotor developmental delay, has been commonly described.…”

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confidence: 99%

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

Kinoshita

Tanaka²,

Yasuhara³

et al. 1992

Amer J Perinatol

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A male newborn infant with a deletion of the short arm of chromosome 10p 14 was described. In addition to the typical clinical features, electrophysiologic studies showed brainstem dysfunction and severe hearing loss when examined with auditory brainstem response and photopalpebral reflex. These electrophysiologic studies may be of benefit for early evaluation of brainstem functions and hearing ability of the patients of such chromosomal aberration and may also be useful predictors of psychomotor development.

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Distal deletion of the short arm of chromosome No. 10: A case report

Cited by 3 publications

References 6 publications

Family with partial monosomy 10p and trisomy 10p

Family with partial monosomy 10p and trisomy 10p

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

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

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