Reproduction in a woman with low percentage t(21q21q) mosaicism.

Mark, Hon Fong L.; Mendoza, T.; Abuelo, Diane; Beauregard, Laurent J.; May, John; LaMarche, P. H.

doi:10.1136/jmg.14.3.221

Cited by 14 publications

(4 citation statements)

References 5 publications

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“…1,2 To the best of our knowledge mosaicism with a normal cell line and a der(21;21)(q10;q10) in a second cell line has been described in the literature in 17 cases. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] Most of them were ascertained by extensive cytogenetic investigations in the parents performed after the birth of a child with trisomy 21 due to der(21;21)(q10;q10) in all cells. In none of them were origin and formation investigated by molecular methods.…”

Section: Introductionmentioning

confidence: 99%

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

Kotzot

Schinzel

2000

Eur J Hum Genet

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Mosaicism for a derivative 21, der(21;21)(q10;q10), is a rare chromosomal abnormality. Since a normal cell line is present, mitotic origin is considered. Chromosome examination of a female with developmental delay and dysmorphic features compatible with mosaic trisomy 21 revealed a normal cell line and a second cell line with a der(21;21)(q10;q10) [46,XX/46,XX,der(21;21)(q10;q10), + 21]. Molecular investigation with a panel of highly polymorphic microsatellites mapping to chromosome 21 demonstrated three different alleles, two of paternal and one of maternal origin. Therefore, either formation of the der(21;21)(q10;q10) during paternal meiosis with subsequent loss of the der(21;21)(q10;q10) and mitotic reduplication of the maternal homologue in the normal cell line, or more likely a zygote with paternally derived trisomy 21 and subsequent mitotic formation of the der(21;21)(q10;q10) have to be considered. This case again shows that mammalian chromosome aberrations may have a more complex mechanism of formation than was previously thought.

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Section: Introductionmentioning

confidence: 99%

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

Kotzot

Schinzel

2000

Eur J Hum Genet

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“…In ∼50% of cases of Robertsonian, the rearrangements occur de novo [6] and ∼95% of the de novo cases originate during maternal meiosis. Mark et al, [7] reported a case of phenotypically normal woman who had recurrence of DS in her offspring. On cytogenetic analysis of this woman she had normal karyotype from her peripheral blood lymphocyte but had t (21;21) mosaicism (with a frequency of 10% cells) in her ovarian and skin cells.…”

Section: Discussionmentioning

confidence: 99%

Robertsonian Translocation t (21; 21) in a Female Born to Normal Parents: A Case Report

Kusre

Sarma

Nirmolia

et al. 2015

JCDR

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A 10-year-old female patient was admitted in the hospital with a history of trochanteric fracture of femur after road traffic accident. On examination patient was observed to have mental retardation and had Ventricular Septal Defect in the heart. The patient was born with flabby muscles, had delayed mile stones, stunted growth for the age, slanting of eyes, flat face and nasal bridge, ineligible speech, and had difficulty in carrying out her day-to-day activities [Table/ Fig-1 patient was the fourth living child of the consanguineous parents. Other three siblings of the case were normal and were pursuing their studies normally [Table/ Fig-2]. Parents of the case were third degree consanguineous. No other family members had any history of mental retardation. The history of the pregnancy during the present case was normal. The results of all biochemical tests were found to be normal.After obtaining signed informed consent, 3 ml of whole blood was collected in heparinised tube from both parents for lymphocyte culture and karyotype was prepared. The blood was cultured in RPMI 1640 with PHA medium (Peripheral Blood Karyotyping Medium, with Phytohemagglutinin (PHA-M), CAT No # 01-201-1B, Biological industries,) and harvested after 67 and half hours. Slides were prepared for GTG banding. The slides were stained by Giemsa stain (CAT No # S011-100ML, Himedia) and 20 spreads for each of the blood sample were examined for chromosomal abnormality by cytovision workstation (Leica DM6000B, Leica Microsystems).

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“…3 (Mark et al, 1977) (Wilroy et al, 1969(Wilroy et al, , 1978 with recurrent 21q21q DS was a maternal chromosome constitution of 47,XX+ microchromosome (bisatellited) in blood, slun, marrow (Table I, Family 9). This abnormality was also present in two of her three normal children.…”

Section: )mentioning

confidence: 99%

“…However, review of the literature regarding apparent de novo GIG translocation DS shows nine families (Table I) in which the chromosome abnormality has recurred in the sibship of the proband (Mark et al, 1977;Wilroy et al, 1969Wilroy et al, , 1978Waxman andArakaki, 1969, Jacobs et al, 1978;Hamerton et al, 1961;Behrman et al, 1966;Prieto et al, 1981;Garver et al, 1982;Schmidt and Nitowsky, 1977), and only one small series with no recurrence (Gardner and Veale, 1974). In light of the relatively infrequent occurrence of de novo GqGq DS in the population and the number of reported recurrent cases, a multicenter study was undertaken to evaluate the recurrence rate in families ascertained after the birth of the index case with de novo GqGq DS.…”

Section: Introductionmentioning

confidence: 99%

Recurrence rate for de novo 21q21q translocation Down syndrome: A study of 112 families

et al. 1984

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Recurrence of de novo GqGq Down syndrome (DS) in nine reported families and the low frequency of this chromosome abnormality in the population prompted this multicenter study to examine recurrence rate. Pedigrees and cytogenetic findings were analyzed from 112 families ascertained by a DS child with de novo GqGq translocation. Four of 112 sets of parents had abnormal cytogenetic findings. One mother and two fathers had a low proportion of mosaicism for trisomy 21 in peripheral lymphocytes. In one of these fathers, fibroblast studies confirmed the mosaicism (others not similarly studied). Two of these three families have one additional child each, both being normal. In the fourth family, the mother is heterozygous for a pericentric inversion of chromosome 21. Ninety of the 112 probands had a total of 130 full sibs and 34 half sibs. None of these 164 sibs was affected; the recurrence rate could still be as high as 2% (with 95% confidence based upon calculation of a one-tailed confidence interval). Because of the latter, the nine reports of recurrence in the literature, and the abnormal cytogenetic findings in peripheral lymphocytes in 4/112 sets of parents (3.6%), we think that caution should be exercised when counseling that the recurrence risk of this event is remote.

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Reproduction in a woman with low percentage t(21q21q) mosaicism.

Abstract: SUMMARY The birth of a child is described with Down syndrome followed by the conception of a fetus bearing the t(2 1q21 q) chromosome in 100 %

Cited by 14 publications

References 5 publications

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

Robertsonian Translocation t (21; 21) in a Female Born to Normal Parents: A Case Report

Recurrence rate for de novo 21q21q translocation Down syndrome: A study of 112 families

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