Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1)

A male infant with failure to thrive was found to have a previously unreported combination of chromosomal structural abnormalities. Evidence is presented which characterizes the abnormal chromosomes as a late-replicating G ring and a pericentric inversion in an early replicating B group chromosome. The mechanisms of pericentric inversion and ring formation are discussed, and possible genetic consequences are noted. The patient's phenotype differed significantly from that of previously reported subjects with G rings, G deletions, and structural abnormalities of the B group. This phenotypic difference could be attributed to the apparent fact that the proband's G ring was a late replicator (G1) and earlier cases were not, on to the seeming variability in ring size which suggested partial trisomy/partial monosomy, or perhaps to the probability that the abnormal B chromosome was pericentrically inverted rather than deleted. The question of the etiologic significance of broken parental chromosomes must be raised, although more study is needed in the area of chromosome breakage, its relationship to abnormal progeny, and the possible role of environmental agents, e.g., drugs and irradiation.

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Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333)

Clinical Genetics ◽

10.1111/j.1399-0004.1984.tb04369.x ◽

2008 ◽

Vol 26 (3) ◽

pp. 209-215 ◽

Cited By ~ 12

Author(s):

F. A. Beemer ◽

H. F. de France ◽

I. J. M. Rosina-Angelista ◽

L. J. Gerards ◽

B. P. Cats ◽

...

Keyword(s):

Pericentric Inversion ◽

Partial Monosomy ◽

Partial Monosomy 5P

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Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q

Pediatrics International ◽

10.1111/j.1442-200x.1993.tb03066.x ◽

1993 ◽

Vol 35 (4) ◽

pp. 340-344 ◽

Cited By ~ 4

Author(s):

TSUGUYO NAKAYAMA ◽

YOICHI SAKAKIHARA ◽

SHIGERU HANAOKA ◽

KUNIHIKO AKAGI ◽

SHIGEHIKO KAMOSHITA

Keyword(s):

Basal Ganglia ◽

Partial Trisomy ◽

Partial Monosomy ◽

Partial Trisomy 5Q

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Partial trisomy 5q and partial monosomy 5q within the same family

Clinical Genetics ◽

10.1111/j.1399-0004.1985.tb00371.x ◽

2008 ◽

Vol 28 (2) ◽

pp. 122-129 ◽

Cited By ~ 15

Author(s):

G. I. Lazjuk ◽

I. W. Lurie ◽

I. A. Kirillova ◽

D. V. Zaletajev ◽

D. B. Gurevich ◽

...

Keyword(s):

Partial Trisomy ◽

Partial Monosomy ◽

Partial Trisomy 5Q

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Familial Translocation t(5;15)(p14.2;q26.2) Causing a Mirror Combination of Several Known Genetic Conditions

Journal of Pediatric Neurology ◽

10.1055/s-0037-1603996 ◽

2017 ◽

Vol 15 (06) ◽

pp. 332-337

Author(s):

Yael Goldberg ◽

Racheli Berger ◽

Amir Peleg ◽

Lena Sagi-Dain

Keyword(s):

Clinical Features ◽

Partial Trisomy ◽

Balanced Translocation ◽

Partial Monosomy ◽

Familial Translocation ◽

Partial Monosomy 5P

AbstractTwo siblings with an unbalanced cytogenetic composition are described: a brother with partial trisomy 5p and distal 15q microdeletion, and a sister with partial monosomy 5p and distal 15q microduplication, resulting from a familial balanced translocation 46,XY; t(5;15)(p14.2;q26.2). To our best knowledge, there are no previous clinical and cytogenetic reports in the literature describing a family with concomitant presence of such a unique mirror combination. Clinical features of pure imbalances and the effects of their combination are discussed.

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