Partial trisomy 16q in two boys resulting from a maternal translocation, t(15;16) (p12;q11)

Nevin, N. C.; Coffey, W. W.; Nevin, J.; Reid, M M

doi:10.1111/j.1399-0004.1983.tb00088.x

Cited by 20 publications

(19 citation statements)

References 6 publications

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“…A short neck, genital hypoplasia, congenital heart disease, anal anomalies (anterior displacement of the anus), and vertebrae anomalies are also observed. However, our patient does not have limb abnormalities such as camptodactyly and joint contractures described in trisomy, including the 16q23 segment [Schmickel et al, 1975;Ridler and McKeown, 1979;Garau et al, 1980;Buckton and Barr, 1981;Rethoré et al, 1982;Nevin et al, 1983;Hatanaka et al, 1984;Hahm et al, 1987;Nyhan et al, 1989;Maher et al, 1991;Houlston et al, 1994;Masuno et al, 2000]. Also, she did not present with foot deformity, as seen in patients with 16q22 trisomy [Schmickel et al, 1975;Balestrazzi et al, 1979;Garau et al, 1980;Rethoré et al, 1982;Nevin et al, 1983;Calva et al, 1984; Schmickel et al [1975]; b, Ridler and McKeown [1979]; c, Nevin et al [1983]; d, Hahm et al [1987]; e, Eggermann et al [1998]; f, Bacino et al [1999]; g, Masuno et al [2000]; h, Perez-Castillo et al [1990]; i, Paladini et al [1999]; j, Buckton and Barr [1981]; k, Davison and Beesley [1984]; l, …”

Section: Discussionmentioning

confidence: 94%

“…Since this case, 28 patients with partial trisomy 16q have been reported [Balestrazzi et al, 1979;Ridler and McKeown, 1979;Garau et al, 1980;Buckton and Barr, 1981;Rethoré et al, 1982;Nevin et al, 1983;Calva et al, 1984;Davison and Beesley, 1984;Hatanaka et al, 1984;Hahm et al, 1987;Dowman et al, 1989;Lessick et al, 1989;Nyhan et al, 1989;Perez-Castillo et al, 1990;Maher et al, 1991;Savary et al, 1991;Houlston et al, 1994;Eggermann et al, 1998;Bacino et al, 1999;Paladini et al, 1999;Masuno et al, 2000]. Most cases of trisomy 16q resulted from a malsegregation of a parental balanced translocation [Schmickel et al, 1975;Balestrazzi et al, 1979;Ridler and McKeown, 1979;Garau et al, 1980;Buckton and Barr, 1981;Rethoré et al, 1982;Nevin et al, 1983;Calva et al, 1984;Davison and Beesley, 1984;Hatanaka et al, 1984;Hahm et al, 1987;Dowman et al, 1989;Lessick et al, 1989;Nyhan et al, 1989;Perez-Castillo et al, 1990;Maher et al, 1991;Savary et al, 1991;Paladini et al, 1999],...…”

Section: Introductionmentioning

confidence: 92%

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Molecular characterization of partial trisomy 16q24.1‐qter: Clinical report and review of the literature

et al. 2002

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We describe a 3(1/2)-year-old girl with psychomotor and mental retardation; dysmorphic features, including a high forehead with bitemporal narrowing; a broad nasal bridge and a broadened nose; downslanting palpebral fissures; abnormal ears; vertebral abnormalities; cardiac defect; genital hypoplasia; and anal abnormalities. The karyotype of our patient (550 bands) was normal. Molecular cytogenetic techniques, including comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), revealed that this girl was a carrier of a de novo derivative chromosome 7 arising from a cryptic t(7;16)(p22.3;q24.1) translocation generating a trisomy 16q24.1-qter and a 7p22.3-pter deletion. FISH with a series of specific chromosome 7p and 16q probes allowed us to delineate the chromosome 7 breakpoint between YAC660G6 (WD7S517) and YAC848A12 (D7S521, D7S31, and WI-4829) and the chromosome 16 breakpoint between BAC457K7 (D42053) and BAC44201 (SGC30711). The comparison of the clinical features of our patient with those of 2 cases of pure terminal 7p deletion and 28 cases of trisomy 16q reported in the literature allowed us to establish the following phenotype-genotype correlation for trisomy of the long arm of chromosome 16: distinctive facies (high/prominent forehead, bitemporal narrowing, periorbital edema in the neonatal period); severe mental retardation; vertebral, genital, and anal abnormalities to 16q24; distal joint contractures and camptodactyly to 16q23; cleft palate and renal anomalies to 16q22; beaked nose and gall bladder agenesis to 16q21; gut malrotation; lung and liver anomalies to 16q13; and behavior abnormalities to band 16q11-q13.

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Section: Discussionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 92%

Molecular characterization of partial trisomy 16q24.1‐qter: Clinical report and review of the literature

et al. 2002

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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%

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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“…Her phenotype was that of male pseudohermaphroditism, with normal male endocrine findings, androgen receptor studies and testicular histology, no evidence of a uterus, but inadequate virilization. Abnormal male genitalia (micropenis, cryptorchidism) have previously been noted in partial trisomy 16q [Balestrazzi et al, 1979;Nevin et al, 1983;Savary et al, 19911, so the contribution of the 1Oq deletion to the genital ambiguity in case 2 cannot be quantified. However, previous reports indicate that it is probably significant.…”

Section: Discussionmentioning

confidence: 98%

Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review

et al. 1993

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We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY, del(10)(q26.1)] had female external genitalia; the other [karyotype 46,XY,-10,+der(10)t (10;16)(q26.2;q21)] had an intersex phenotype. Of 8 males previously reported with terminal 10q deletion as the major or only cytogenetic abnormality, 2 had an intersex phenotype, and the others all had combinations of cryptorchidism, micropenis, and hypospadias. Terminal 10q deletions appear to be strongly associated with abnormal male genital development, and should be specifically searched for in the cytogenetic workup of such cases.

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Partial trisomy 16q in two boys resulting from a maternal translocation, t(15;16) (p12;q11)

Abstract: Two male infants with almost complete trisomy 16q due to a maternal translocation, are reported. The phenotypic similarities of these patients who had trisomy 16q11 leads 16qter and of the eight previously published reports of partial trisomy 16q, were compared.

Cited by 20 publications

References 6 publications

Molecular characterization of partial trisomy 16q24.1‐qter: Clinical report and review of the literature

Molecular characterization of partial trisomy 16q24.1‐qter: Clinical report and review of the literature

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

Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review

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