Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Lindenbaum, R H; Bobrow, Martin

doi:10.1136/jmg.12.1.29

Cited by 102 publications

(51 citation statements)

References 90 publications

(62 reference statements)

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“…[4][5][6][7][8] This results from the production of gametes and embryos with unbalanced chromosome sets. 9,10 The clinical consequences of such abnormal gametes include sterility, repeated abortions, and giving birth to malformed children. 11,12 Several studies have been done in various countries to determine the contribution of chromosome abnormalities in parents with fetal wastage.…”

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confidence: 99%

Cytogenetic Study in Cases with Recurrent Abortion in Saudi Arabia

et al. 2000

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Background: A proportion of cases with repeated abortion are caused by chromosomal abnormality in one of the parents. Several studies have been done to determine the role of chromosomal abnormalities in couples with repeated fetal loss in various countries. None of these studies was done in the Arab Peninsula. Material and Methods: Cytogenetic study was done for 193 consecutive Saudi couples who presented with repeated abortion at the King Khalid University Hospital in Riyadh, Saudi Arabia. Results: We found that the frequency of chromosomal abnormalities was not significantly different from that reported worldwide. The nature of those abnormalities and their relation to the obstetric history of cases were discussed. Approximately 15%-20% of clinically recognizable pregnancies end in spontaneous abortion. Conclusion1,2 The incidence of chromosomal abnormalities in those abortions is as high as 50%.3 A modest but clinically important proportion of spontaneous abortions is caused by a balanced chromosomal aberration in one of the parents. [4][5][6][7][8] This results from the production of gametes and embryos with unbalanced chromosome sets.9,10 The clinical consequences of such abnormal gametes include sterility, repeated abortions, and giving birth to malformed children. 11,12Several studies have been done in various countries to determine the contribution of chromosome abnormalities in parents with fetal wastage. 13 To our knowledge, no such studies have been done in the Arabian Peninsula. The aim of this study was to assess the frequency and nature of chromosomal aberrations that contribute to the occurrence of repeated abortions in Saudi Arabia. This should assist physicians in Saudi Arabia and other neighboring countries by increasing their awareness of the frequency of cytogenetic abnormalities in cases with repeated abortions. It also provides figures for comparison with other countries and research centers. Materials and MethodsThis study included all Saudi couples with repeated abortions who were referred for cytogenetic studies between December 1994 and December 1998 at King Khalid University Hospital in Riyadh, Saudi Arabia. All cases were ascertained to have had two or more spontaneous abortions. Couples who were referred because of having previous children with congenital anomalies and abortions were not included in the study. The obstetric history of couples was either recorded on the request form or retrieved from the files of patients.For routine cytogenetic analysis, 0.3 mL of peripheral blood was incubated in complete lymphocyte culture medium (10% fetal bovine serum in RPMI 1640, with 0.15% phytohemagglutinin and 1% Penstrept in 5% CO 2 incubator at 37°C for three days). Metaphases were harvested by adding colcemid for 20 minutes, followed by hypotonic KCl treatment for 5 minutes and fixation, using standard 3:1 methanol-acetic fixative (all the reagents were from GIBCO Life Technologies Ltd., Paisley, Scotland). The high-resolution study was done by synchronization, using methotrexate (10 -7 M...

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Cytogenetic Study in Cases with Recurrent Abortion in Saudi Arabia

et al. 2000

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“…According to Lindenbaum and Bobrow (1975), 3 : 1 disjunction is rare and represents 6-25~ o of the total chromosomal imbalances caused by reciprocal translocations. There is increasing evidence to suggest that the involvement of an acrocentric chromosome or a chromosome 9 in the translocations predisposes to 3 : 1 disjunction (Jalbert and Sele, 1979).…”

Section: Dermatoglyph1c Findingsmentioning

confidence: 99%

“…As far as we know, tertiary trisomy 9p or 9q-has been described in 20 families with reciprocal translocations. Eight cases out of them resulted from translocations between an acrocentric and a chromosome 9 (Rethor6 et al, 1973;Podruch and Weisskopf, 1974;Turleau et al, 1974;Balicek et al, 1975;Philippe et aL, 1975;Abe et aL, 1976;Lewandowski et al, 1976;Habedank and Faust, 1978), and the remaining 12 cases had translocations between a nonacrocentric chromosome and a chromosome 9 (Rott et al, 1971 ;Rethor6 et al, I973;Rethor6 et at., 1974;Schwanitz et aL, 1974;Centerwall et al, 1975;Lindenbaum and Bobrow, 1975;Mason et al, 1975;Penchaszadeh and Coco, 1975;Stoll et al, 1975;Sutherland et al, 1976;Moirot et al, 1977;Neu et at., 1979). In the latter group, it should be noted that the following three features were shared by all of the cases: (1) the 3 : 1 disjunction was derived from a maternal translocation; (2) no unbalanced offspring due to 2 : 2 segregation have been ascertained in the same family; and (3) the derivative chromosome 9, which was always shorter than the other translocation chromosome, had a breakpoint on its long arms and retained more or less the heterochromatic region (gqh).…”

Section: Dermatoglyph1c Findingsmentioning

confidence: 99%

Partial trisomies 9 and 4 resulting from maternal translocation t(4; 9) (q25?; q13)

et al. 1981

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“…5). Esto, sumado al hecho que no se forma quiasma en los segmentos intercambiados muy cortos 17 , favorece la no disyuncion del derivativo 22, el cual puede migrar a cualquiera de los dos polos del ecuador, produciendose asi una segregacion 3:1 que explica el 22q~ encontrado. en los probandos 2 y 3.…”

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Trisomia 22

B¹,

R²,

D³

et al. 1986

Rev. chil. pediatr.

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Three clinical-cytogenetical entities involving trisorny 22 have been recently delineated: the Cat-Eye Syndrome, partial trisomy and full trisomy 22, which existence in livebirth is still controversial. We report a newborn with a full trisomy 22 due to a "de novo" (15;22) translocation and two patients with partial trisomy 22 (47,XY and XX, +der(22), t(ll;22) (q25 ;q!3)mat), due to a 3:1 segregation of their mothers. The patient with the full trisomy died in the NBP and autopsy showed pulmonary malformations previously not described. The patients with partial trisomy 22 are alive and show mild psychomotor retardation. The clinical and cytogenetical characteristics of the probands and relatives and their recurrence risks aie discussed. En 1886, Haab describio la asociacion ch'nica entre atresia anal y coloboma del iris. En 1965, Schachenmann y cols, demostraron que pacientes con esta asociacion tenian un pequeno cromosoma acrocentrico extra.1 En los anos siguientes se amplio el espectro clinico de esta afeccion y coloquialmente comenzo a denominarse Sindrome de Ojo de Gato (SOG) 2 -3 ' 4 . Con el advenimiento de nuevas tecnicas citogeneticas, a principios de la decada del 70, Buhler y Hsu demostraron que el fragmento cromosomico extra correspondia a un 22 3 ' 4 . En 1977, diversos autores sefialan la existencia de diferentes formas de trisomia 22, que con frecuencia involucran translocaciones 5^7 . Solo en los ultimos anos se ha logrado diferenciar citogeneticamente 3 afecciones diferentes relacionadas al cromosoma 22 y que comparten ciertas caracten'sticas cli'nicas: el SOG, que correspondent a una duplicacion e inversion del segmento pericentromerico del 22; la trisomia parcial 22 y la trisomia 22 total, cuya existencia aun esta en discusion( Tabla 1) 3<8~10 . La confirmacion citogenetica de un paciente con una trisomia 22 total por translocacion de novo, en un recien nacido que fallece, y la presencia de trisomia 22 parcial en dos pacientes,

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Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Cited by 102 publications

References 90 publications

Cytogenetic Study in Cases with Recurrent Abortion in Saudi Arabia

Cytogenetic Study in Cases with Recurrent Abortion in Saudi Arabia

Partial trisomies 9 and 4 resulting from maternal translocation t(4; 9) (q25?; q13)

Trisomia 22

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