Trisomy-16 in a mosaic carrier father and his aborted foetus.

Arakaki, D. T.; Waxman, Sorrell H.

doi:10.1136/jmg.6.1.85

Cited by 14 publications

(7 citation statements)

References 4 publications

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“…In studies carried out prior to the introduction of chromosome banding, there are isolated reports of full trisomy 16 and trisomy 16 mosaicism in adults and newborn infants [Lewis et al, 1963;Schmidt et al, 1963;Melnyk et al, 1968;Backus and Darien, 1968;Arakaki and Waxman, 1969;Taylor, 19711. These reports have been regarded with some skepticism since complex rearrangements and other structural abnormalities involving the C group and X chromosomes could not be ruled out [Roberts and Duckett, 19781.…”

Section: Discussionmentioning

confidence: 96%

“…This conclusion is based on the fact that while trisomy 16 is a common finding in first trimester spontaneous abortions, only a few isolated cases of trisomy 16 in liveborn infants and adults have been described; these reports show no consistent pattern of anomalies [Lewis et al, 1963;Schmidt et al, 1963;Melnyk et al, 1968;Backus and Darien, 1968;Arakaki and Waxman, 1969;Taylor, 19711. Recently, several liveborn infants with trisomy 16 mosaicism have been described [Gilbertson et al, 1990;Greally et al, 1990;Jalal et al, 19921 and we now report a case with clinical findings similar to those seen in one of t,hese reports.…”

Section: Introductionmentioning

confidence: 87%

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Variable clinical expression of mosaic trisomy 16 in the newborn infant

et al. 1993

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Trisomy 16 is common in embryos and fetuses aborted early during development. Mosaicism for trisomy 16 is sometimes encountered during prenatal diagnosis, particularly with chorionic villi biopsy specimens, and, until recently, was thought to be confined to the placenta. However, recently, several liveborn infants with trisomy 16 mosaicism have been described. We report on an additional liveborn infant with trisomy 16 mosaicism and compare the clinical findings with those of the previously reported cases in an attempt to delineate a mosaic trisomy 16 syndrome. Cytogenetic analysis from our patient showed that there was a different proportion of abnormal cells in different tissues and that the anomaly was undetectable in blood lymphocyte cultures. This observation was consistent with some of the previous reports. DNA analysis of parents and child was carried out using a polymorphic dinucleotide marker that maps to the long arm of chromosome 16. This analysis showed that the extra chromosome 16 in the infant was maternal in origin and suggested that the nondisjunction was probably a first meiotic division error. Our results suggest that an investigation of multiple tissues is required before concluding that mosaicism is confined to the placenta. We conclude that a finding of trisomy 16 mosaicism at prenatal diagnosis should be regarded with extreme caution. This diagnosis may be associated with a highly variable phenotype that may occasionally be compatible with extrauterine life.

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Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 87%

Variable clinical expression of mosaic trisomy 16 in the newborn infant

et al. 1993

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“…Excluding cases of trisomy 16 mosaicism described prior to the introduction of chromosome banding [Schmidt et al, 1963;Backus and Darien, 1968;Arakaki and Waxman, 1969], there are only two reports of trisomy 16 mosaicism in which the diagnosis was established neonatally. Gilbertson et al [1990] described a boy born at 39 weeks gestation with severe growth retardation, craniofacial asymmetry with hypertelorism, coloboma, short nose, flat nasal bridge, preauricular pit, low-set malformed ears, scoliosis, hypoplastic left nipple, single palmar crease, overlapping finger, bilateral talipes, undescended testis, left inguinal hernia, noncommunicating hydrocele, and a ventricular septal defect (VSD).…”

Section: Neonatal Casesmentioning

confidence: 93%

Trisomy 16 and trisomy 16 mosaicism: A review

Benn

1998

Am. J. Med. Genet.

143

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A review of all prenatal and postnatal diagnoses of trisomy 16 and trisomy 16 mosaicism was carried out in the context of the current understanding of confined placental mosaicism and uniparental disomy (UPD). The prenatal detection of trisomy 16 cells is associated with a high probability of fetal death, preterm delivery, intrauterine growth retardation, and fetal anomalies. Birth defects were typical of those seen in nonmosaic partial duplications of chromosome 16. Surprisingly, anomalies were sometimes limited to a single organ and included some relatively common isolated defects such as a ventricular septal defect, hypospadias, imperforate anus, inguinal hernia, and clubfoot. The risk for abnormality appeared to be higher in those pregnancies in which trisomy 16 cells were identified in amniotic fluid compared to the detection in chorionic villi samples. Contrary to nonmosaic trisomy 16 with an excess of males, mosaic trisomy 16 shows an excess of female karyotypes. Following the prenatal detection of trisomy 16 cells, aneuploid cells are almost never found in fetal or neonatal lymphocytes. Studies on fibroblasts also often fail to confirm the presence of the abnormal cell line even in cases in which multiple anomalies are present. It is likely that trisomy 16 cells are sometimes present in the early developing embryo even though subsequent cytogenetic studies on fetal or neonatal tissues may not detect any aneuploid cells. UPD can be excluded as a mechanism for those anomalies that are common to mosaic trisomy 16 and nonmosaic partial duplications. The term "occult mosaicism" is suggested to describe the situation in which the presence of an abnormal cell line is suspected on the basis of clinical data but unproven by laboratory analysis.

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“…There are, however, four reports of full trisomy 16 surviving pregnancy (Lewis et al 1963;Gilgenkrantz et al 1967;Melnyk et al 1968;Taylor 1971). Six reports describe mosaic trisomy 16 in individuals with widely variable phenotypes (Schmidt et al 1963;Backus and Darien 1968;Arakaki and Waxman 1969;Rowley andHodges, cited in Arakaki andWaxman, 1969, Konstantinova, cited in Borgaonker andBolling 1977;Gilbertson et al 1990). Subsequent to our initial report of this child (Greally et al 1990) there have been three reports of mosaic trisomy 16 in babies (Hajianpour et al 1992;Devi et al 1993;Lindor et al 1993).…”

Section: Introductionmentioning

confidence: 92%

A molecular anatomical analysis of mosaic trisomy 16

et al. 1996

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A one-month-old child presenting with an aortic coarctation was found to have a left single transverse palmar crease and proportionate growth delay on physical examination, prompting a peripheral blood chromosome analysis. This showed a mosaic trisomy of chromosome 16, subsequently observed to decrease with the passage of time. As her phenotype was relatively benign, further analysis was performed to define more precisely the extent of her mosaicism given the supposedly lethal nature of the aneuploid cell line. Fluorescence in situ hybridisation and CA repeat polymorphism studies demonstrated the aneuploidy in multiple tissues, including the structurally affected aorta. Molecular analysis showed both maternal chromosomes 16 to be present in the trisomic cells, but maternal heterodisomy was not present in the diploid cells. Given the increasing number of individuals described with aneuploid mosaicism, we suggest that the study of multiple tissues is a necessary approach, the eventual goal being the appreciation of the relationship between the characteristics of a somatic mosaicism and the phenotype it imparts.

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Trisomy-16 in a mosaic carrier father and his aborted foetus.

Cited by 14 publications

References 4 publications

Variable clinical expression of mosaic trisomy 16 in the newborn infant

Variable clinical expression of mosaic trisomy 16 in the newborn infant

Trisomy 16 and trisomy 16 mosaicism: A review

A molecular anatomical analysis of mosaic trisomy 16

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