Behaviour disorder in monosomy 10qter.

Mehta, Lakshmi; Duckett, D P; Young, I D

doi:10.1136/jmg.24.3.185

Cited by 33 publications

(30 citation statements)

References 19 publications

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“…[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. In addition, patient 1 had a behavior disorder similar to the one reported by Mehta et al [1987]. Congenital heart disease was reported in 32% (9 of 28) of the patients.…”

Section: Discussionmentioning

confidence: 59%

“…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.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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

et al. 1999

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We report on 3 patients with partial deletions of the long arm of chromosome 10-46,XY,del (10)(q26.2), 46,XX,del(10) (q25.3q26.3) or 46,XX,del(10)(q26.1), and 46,XX,del (10)(q26.1). They are compared with other known cases with interstitial or terminal deletions involving chromosome bands 10q25 or q26. Unique manifestations are identified, including scoliosis and a severe behavior disorder with attention deficit and hyperactivity in a 12-year-old boy as well as patchy alopecia in a 6-year-old patient.

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 99%

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

et al. 1999

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“…1983; Shapiro et al, 1985;Brusnicky et al, 1986;Curtis et al, 1986;Mehta et al, 1987;Vanlieferinghen et al, 19871 with breakpoints ranging from 10q23 -> q26.2. We report three additional patients and summarize the distinct phenotype of patients with del 10qter.…”

Section: Introductionmentioning

confidence: 98%

Chromosome 10qter deletion syndrome: A review and report of three new cases

Wulfsberg

Weaver²,

Cunniff

et al. 1989

Am. J. Med. Genet.

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We report on three patients with terminal deletions of chromosome 10q and compare them to 15 previously reported patients. A similar facial appearance with a prominent beaked nose, large and/or malformed ears, and a pattern of major abnormalities including severe mental retardation, cardiac anomalies, and anogenital anomalies are reviewed. We feel the manifestations of del 10qter are sufficiently distinct to suggest this diagnosis on clinical examination.

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“…In N03R088, who had a 10q26.3 deletion, a triangular face was not observed as previously reported. 21 A five item checklist was proposed by de Vries et al to improve the detection rate of subtelomeric rearrangements in MR subjects. 22 Retrospective scoring using the checklist revealed that the mean score in our 69 cases was 5.8, and scores in N02R245, N03R003, N03R017, and N03R088, who had subtelomeric rearrangements, were 2, 6, 6, and 6, respectively.…”

Section: Discussionmentioning

confidence: 99%