t(15;21)(q15;q22.1)pat Resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring

Dvorah Abeliovich; Judith Dagan; Israela Lerer; Shira Silberstein; Mariassa Bat Miriam Katznelson; Moshe Frydman

doi:10.1002/(SICI)1096-8628(19961202)66:1<45::AID-AJMG10>3.0.CO;2-Q

t(15;21)(q15;q22.1)pat Resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring

Dvorah Abeliovich^*
, Judith Dagan
, Israela Lerer
, Shira Silberstein
, Mariassa Bat Miriam Katznelson
, Moshe Frydman

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Abstract

Two sibs, carriers of unbalanced products of the translocation t(15;21)(q15;q22.1)pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1). The translocation breakpoint on chromosome 21 was located proximal to the SOD1 gene, within a region of 4.0 cM (2.3 Mb) between the loci D21S217 and D21S213. The correlations between the clinical presentation and the molecular findings of the two sibs are discussed in relation to other patients with partial trisomy and monosomy 23.

Original language	English
Pages (from-to)	45-51
Number of pages	7
Journal	American Journal of Medical Genetics
Volume	66
Issue number	1
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1<45::AID-AJMG10>3.0.CO;2-Q
State	Published - 2 Dec 1996
Externally published	Yes

Keywords

D21S213
D21S217
Prader-Willi syndrome
duplication 15(pter > q15)
partial monosomy 21
partial trisomy 21
translocation breakpoint

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10.1002/(SICI)1096-8628(19961202)66:1<45::AID-AJMG10>3.0.CO;2-Q

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title = "t(15;21)(q15;q22.1)pat Resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring",

abstract = "Two sibs, carriers of unbalanced products of the translocation t(15;21)(q15;q22.1)pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1). The translocation breakpoint on chromosome 21 was located proximal to the SOD1 gene, within a region of 4.0 cM (2.3 Mb) between the loci D21S217 and D21S213. The correlations between the clinical presentation and the molecular findings of the two sibs are discussed in relation to other patients with partial trisomy and monosomy 23.",

keywords = "D21S213, D21S217, Prader-Willi syndrome, duplication 15(pter > q15), partial monosomy 21, partial trisomy 21, translocation breakpoint",

author = "Dvorah Abeliovich and Judith Dagan and Israela Lerer and Shira Silberstein and Katznelson, \{Mariassa Bat Miriam\} and Moshe Frydman",

year = "1996",

month = dec,

day = "2",

doi = "10.1002/(SICI)1096-8628(19961202)66:1<45::AID-AJMG10>3.0.CO;2-Q",

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pages = "45--51",

journal = "American Journal of Medical Genetics",

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AU - Abeliovich, Dvorah

AU - Dagan, Judith

AU - Lerer, Israela

AU - Silberstein, Shira

AU - Katznelson, Mariassa Bat Miriam

AU - Frydman, Moshe

PY - 1996/12/2

Y1 - 1996/12/2

N2 - Two sibs, carriers of unbalanced products of the translocation t(15;21)(q15;q22.1)pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1). The translocation breakpoint on chromosome 21 was located proximal to the SOD1 gene, within a region of 4.0 cM (2.3 Mb) between the loci D21S217 and D21S213. The correlations between the clinical presentation and the molecular findings of the two sibs are discussed in relation to other patients with partial trisomy and monosomy 23.

AB - Two sibs, carriers of unbalanced products of the translocation t(15;21)(q15;q22.1)pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1). The translocation breakpoint on chromosome 21 was located proximal to the SOD1 gene, within a region of 4.0 cM (2.3 Mb) between the loci D21S217 and D21S213. The correlations between the clinical presentation and the molecular findings of the two sibs are discussed in relation to other patients with partial trisomy and monosomy 23.

KW - D21S213

KW - D21S217

KW - Prader-Willi syndrome

KW - duplication 15(pter > q15)

KW - partial monosomy 21

KW - partial trisomy 21

KW - translocation breakpoint

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AN - SCOPUS:0029857915

SN - 0148-7299

VL - 66

SP - 45

EP - 51

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 1

ER -

t(15;21)(q15;q22.1)pat Resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring

Abstract

Keywords

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