Prenatal findings in trisomy 16q of paternal origin

Paladini, D.; D’Agostino, Antonio; Liguori, M; Teodoro, A.; Tartaglione, Antonio; Colombari, Sonia; Martinelli, Pasquale

doi:10.1002/(sici)1097-0223(199905)19:5<472::aid-pd557>3.0.co;2-h

Cited by 21 publications

(20 citation statements)

References 22 publications

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“…The involvement of some specific loci in the aberrant chromosome can then be determined by means of FISH using specific probes, and genetic marker analysis using specific STR markers. Prenatal diagnosis of trisomy 16 or trisomy 16q is uncommon (Bianchi et al, 1992;Cusick et al, 1995;Yancey et al, 1996;Paladini et al, 1999). The reported abnormal findings of trisomy 16q on prenatal ultrasound include hydrocephalus (Bianchi et al, 1992), and IUGR, micrognathia, congenital heart defects, clinodactyly, and abnormal external genitalia (Paladini et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

“…The reported cases have a wide spectrum of abnormalities that include generalized hypotonia, absence of suck, postnatal growth failure, pronounced psychomotor retardation, central nervous system malformations, craniofacial dysmorphic features, a high forehead with an enlarged metopic suture, bitemporal narrowing and frontal bossing, a prominent nose with a broad tip, a *Correspondence to: Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan, Republic of China. E-mail: cpc mmh@yahoo.com diminished upper lip, micrognathia, low-set and dysplastic ears, preauricular pits, hypertelorism, epicanthal folds, a short neck, a variety of positional abnormalities in the vertebrae, hands and feet, camptodactyly, clinodactyly of the fifth fingers, congenital heart defects, malformation of the gut, ambiguous genitalia, hypospadia, small penis, bifid scrotum, undescended testes, and anorectal anomalies (Carlin, 1990;Houlston et al, 1994;Bacino et al, 1999;Paladini et al, 1999;Masuno et al, 2000).…”

Section: Introductionmentioning

confidence: 99%

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Perinatal findings and molecular cytogenetic analysis ofde novo partial trisomy 16q (16q22.1?qter) and partial monosomy 20q (20q13.3?qter)

Chen

Lin

et al. 2005

Prenat. Diagn.

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Partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter) may be associated with the perinatal findings of IUGR, dolichocephaly, hypotonia, cleft palate, congenital heart defects, a subependymal cyst, and hypospadia. SKY, FISH, and genetic marker studies help in delineating the parental origin and the regions of the deletion and duplication in the de novo unbalanced translocation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Perinatal findings and molecular cytogenetic analysis ofde novo partial trisomy 16q (16q22.1?qter) and partial monosomy 20q (20q13.3?qter)

Chen

Lin

et al. 2005

Prenat. Diagn.

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“…Eighteen new pedigrees of RCT carriers at risk of single‐segment imbalance 16q together with 11 pedigrees from original data by Stengel‐Rutkowski et al (5) were used for re‐evaluation of the previously published probability estimation for unbalanced offspring at birth, unbalanced fetuses diagnosed after amniocentesis, unkaryotyped stillbirths or early deaths, and miscarriages (3, 5–23). Other RCT carriers at risk of double‐segment imbalances were not evaluated as different genetic contents of the additional chromosome segment results in too large inhomogeneity of that subgroup.…”

Section: Methodsmentioning

confidence: 99%

“…Bo2002 (see Appendix), 7. Palladini et al (10), 8. E1981, Central Birmingham, Stengel‐Rutkowski et al (5), 9.…”

Section: Methodsmentioning

confidence: 99%

“…They were four pedigrees of RCT carriers with breakpoint at 16q11 ( Fig. 2, nos 2-5), two with breakpoint at 16q12 (nos 6-7), nine with breakpoint at 16q13 (nos [8][9][10][11][12][13][14][15][16], five with breakpoint at 16q21 (nos 17-21), six with breakpoint at 16q22 (nos [22][23][24][25][26][27], and two with breakpoint at 16q23 (nos [28][29]. Due to limited number of observations, we finally distinguished two groups of joint data, one with proximal breakpoints at 16q11, 16q12, and 16q13 and other with more distal breakpoints at 16q21, 16q22, and 16q23.…”

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confidence: 99%

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Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

Stasiewicz‐Jarocka

Haus

Assche³

et al. 2004

Clinical Genetics

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Families with balanced chromosomal changes ascertained by unbalanced progeny, miscarriages, or by chance are interested in their probability for unbalanced offspring and other unfavorable pregnancy outcomes. This is usually done based on the original data published by Stengel-Rutkowski et al. several decades ago. That data set has never been updated. It is particularly true for the subgroup with low number of observations, to which belong reciprocal chromosomal translocations (RCTs) with breakpoint in an interstitial segment of 16q. The 11 pedigrees from original data together with the new 18 pedigrees of RCT carriers at risk of single-segment imbalance detected among 100 pedigrees of RCT carriers with breakpoint position at 16q were used for re-evaluation of the probability estimation for unbalanced offspring at birth and at second trimester of prenatal diagnosis, published in 1988. The new probability rate for unbalanced offspring after 2 : 2 disjunction and adjacent-1 segregation for the total group of pedigrees was 4 +/- 3.9% (1/25). In addition, the probability estimate for unbalanced fetuses at second trimester of prenatal diagnosis was calculated as 2/11, i.e. 18.2 +/- 11.6%. The probability rates for miscarriages and stillbirths/early deaths were about 16 +/- 7.3% (4/25) and <2% (0/25), respectively. Considering different segment lengths of 16q, higher probability rate (0/8, i.e. <6.1%) for maternal RCT carriers at risk of distal 16q segment imbalance (shorter segment) was obtained in comparison with the rate (0/10, i.e. <4.8%) for RCT at risk of proximal segment imbalance (longer segment). It supports findings obtained from the original data for RCT with other chromosomes, where the probability for unbalanced offspring generally increased with decreasing length of the segments involved in RCT. Our results were applied for five new families with RCT involving 16q, namely three at risk of single-segment imbalance [t(8;16)(q24.3;q22)GTG, ish(wcp8+,wcp16+;wcp8-,wcp16+), t(11;16)(q25;q22)GTG, and t(11;16)(q25;q13)GTG] and two with RCT at risk of double-segment imbalance [t(16;19)(q13;q13.3)GTG, isht(16;19)(q13;q13.3) (D16Z3+,16QTEL013-D19S238E+,TEL19pR-; D16Z3-, D19S238E-,TEL19pR+), and t(16;20)(q11.1;q12)GTG, m ish,t(16;20)(wcp16+,wcp20+;wcp16+,wcp20+)]. They have been presented in details to illustrate how the available empiric data could be used in practice for genetic counseling.

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Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report

Johnson

Duncan²,

Blunt

et al. 2000

Prenat. Diagn.

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Trisomy 16 is frequently found confined to the placenta (confined placental mosaicism (CPM)), with a structurally normal fetus. In some cases of trisomy 16, the fetus has uniparental disomy for chromosome 16 (UPD16) which is associated with intrauterine growth restriction (IUGR) and fetal anomalies. We report a case of apparent confined placental mosaicism for trisomy 16, using standard cytogenetic techniques, but with multiple fetal abnormalities including congenital diaphragmatic hernia in which there was no evidence of UPD in the disomic tissues examined. Subsequent examination of fetal tissues using fluorescent in situ hybridization (FISH) demonstrated low levels of mosaicism for trisomy 16 in all the tissues examined. The use of FISH permits identification of mosaicism which conventional techniques may not identify.

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Prenatal findings in trisomy 16q of paternal origin

Cited by 21 publications

References 22 publications

Perinatal findings and molecular cytogenetic analysis ofde novo partial trisomy 16q (16q22.1?qter) and partial monosomy 20q (20q13.3?qter)

Perinatal findings and molecular cytogenetic analysis ofde novo partial trisomy 16q (16q22.1?qter) and partial monosomy 20q (20q13.3?qter)

Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report

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