Upper airway malformation associated with partial trisomy 11q

Zhao, Haijiao; Rope, Alan F.; Saal, Howard M.; Blough-Pfau, Ruthann I.; Hopkin, Robert J.

doi:10.1002/ajmg.a.20134

Cited by 31 publications

(47 citation statements)

References 24 publications

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“…Phenotypic features include growth and mental retardation, hypotonia and congenital heart defects, some of which features were observed in case 20. It has been proposed that the region 11q21-23.2 may be associated with certain upper airway malformations (Zhao et al, 2003). Inheritance status is unknown at the time of writing.…”

Section: Abnormal Postnatal Karyotype Following Normal Prenatal Qf-pcmentioning

confidence: 99%

QF‐PCR as a stand‐alone test for prenatal samples: the first 2 years' experience in the London region

et al. 2010

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Objective To analyse the results of the first 2 years of a QF-PCR stand-alone testing strategy for the prenatal diagnosis of aneuploidy in the London region and to determine the advantages and disadvantages of this policy.Methods A review of the results of 9737 prenatal samples received for exclusion of chromosome abnormalities. All samples were subjected to QF-PCR testing for common aneuploidies but only samples fulfilling specific criteria subsequently had a full karyotype analysis. ResultsOf the 9737 samples received, 10.3% had a chromosome abnormality detected by QF-PCR testing. Of the 7284 samples received with no indication for karyotype analysis, 25 (0.3%) received a normal QF-PCR result but subsequently had an abnormal karyotype detected either prenatally as a privately funded test or postnatally. Of these samples, without subsequent abnormal ultrasound findings, five had a chromosome abnormality associated with a poor prognosis, representing 0.069% of samples referred for Down syndrome testing.Conclusion While back-up karyotyping is required for some samples, using QF-PCR as a stand-alone prenatal test for pregnancies without ultrasound abnormalities reduces costs, provides rapid delivery of results, and avoids ambiguous and uncertain karyotype results, reducing parental anxiety.

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Section: Abnormal Postnatal Karyotype Following Normal Prenatal Qf-pcmentioning

confidence: 99%

QF‐PCR as a stand‐alone test for prenatal samples: the first 2 years' experience in the London region

et al. 2010

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“…This suggests that the altered cry in der(5)t(5p;11q) individuals may be independent of 11q gene dosage and is directly related to partial 5p deletion. The cry in der(5)t(5p;11q) infants has been described as either catlike (Mann and Rafferty, 1972;Mutchinick et al, 1988), high-pitched (Zhao et al, 2003), or was presumed normal (Wallerstein et al, 1992), and such phenotypic variability reflects that reported in the literature for the cry in Cri du chat syndrome (CDCS). These findings support the possi- Fig.…”

Section: Discussionmentioning

confidence: 77%

“…Of all segmental trisomy 11q cases described to date, including those with 'pure' partial trisomy 11q (Pfeiffer and Schutz, 1993;de Die-Smulders and Engelen, 1996;Legius et al, 1996;Smeets et al, 1997;Delobel et al, 1998;Zhao et al, 2003;Yelavarthi and Zunich, 2004), only those involving translocation of the 11q segment to 5p are associated with an abnormal cry. This suggests that the altered cry in der(5)t(5p;11q) individuals may be independent of 11q gene dosage and is directly related to partial 5p deletion.…”

Section: Discussionmentioning

confidence: 99%

“…Comparison of clinical features noted in isolated partial trisomy 11q (Pfeiffer and Schutz, 1993;de Die-Smulders and Engelen, 1996;Legius et al, 1996;Smeets et al, 1997;Delobel et al, 1998;Zhao et al, 2003;Yelavarthi and Zunich, 2004), the five previously reported individuals with der (5) Zhao et al, 2003), our der(5)t(5;11)(p15.3;q22) patient, and Cri du chat syndrome ( e Niebuhr, 1978;Wilkins et al, 1983;Mainardi et al, 2001). Features present in more than a single patient with trisomy 11q are listed.…”

Section: Tablementioning

confidence: 95%

“…Copyright © 2007 S. Karger AG, Basel A combination of segmental trisomy 11q and partial monosomy 5p arising from meiotic malsegregation of a balanced parental t(5p;11q) has only been documented in five individuals, two of whom belonged to the same family (Mann and Rafferty, 1972;Mutchinick et al, 1988;Wallerstein et al, 1992;Zhao et al, 2003). Each of these patients had a 'cat-like' or 'high-pitched' cry (Mann and Rafferty, 1972;Mutchinick et al, 1988;Zhao et al, 2003), with the exception of a female described in one sparsely detailed case (Wallerstein et al, 1992). Because no reports exist of an ab-…”

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Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3)

Hodge¹,

Lawson-Yuen

Stoler

et al. 2007

Cytogenet Genome Res

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We report a newborn male with multiple congenital anomalies including growth retardation, hypotonia, dysmorphic facies, widely-spaced nipples, micropenis, cryptorchidism, optic nerve hypoplasia, heart disease, and a striking, high-pitched cry. Chromosome analysis revealed de novo partial trisomy 11q due to a der(5)t(5;11)(p15.3;q22). Fluorescence in situ hybridization (FISH) showed loss of the 5p telomere signal on the der(5) chromosome, indicating the infant has partial monosomy 5p in addition to partial trisomy 11q. Among cases involving trisomy 11q, an unusual cry has only been documented in the presence of a der(5)t(5p;11q). This apparent dependence of the abnormal cry on monosomy 5p suggested the same genetic mechanism that occurs in Cri du chat syndrome (CDCS) may be responsible for the atypical cry in der(5)t(5p;11q) individuals. Neither a commercial CDCS probe (LSI D5S23, D5S721) nor a series of BAC clones encompassing distal regions implicated in the CDCS-associated cat-cry were deleted in our patient. These results suggest a second cry-modifying locus maps telomeric to BAC RP11-94J21 in band 5p15.33. This locus may not only cause the abnormal cry in individuals with a der(5)t(5p;11q) but could also contribute to the phenotypic variability and discordant mapping studies observed for CDCS.

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Congenital diaphragmatic hernia associated with duplication of 11q23‐qter

Klaassens

Scott

Dooren

et al. 2006

American J of Med Genetics Pt A

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Congenital diaphragmatic hernia (CDH) is a relatively common birth defect with a high mortality. Although little is known about its etiology, there is increasing evidence for a strong genetic contribution. Both numerical and structural chromosomal abnormalities have been described in patients with CDH. Partial trisomy 11q and partial trisomy 22 associated with the common t(11;22) has been reported in several cases of CDH. It has been assumed that the diaphragmatic defect seen in these individuals was primarily due to duplication of material from chromosome 22q11. However, in this report we describe a family with a t(11;12) in which one of two brothers with partial trisomy 11q has a left sided posterolateral CDH. This is the second case of CDH in partial trisomy 11q due to an unbalanced translocation other than t(11;22). Using array-based comparative genomic hybridization and fluorescent in situ hybridization, we mapped the breakpoints in both brothers and their mother who is a balanced translocation carrier. Our results suggest that duplication of one or more genes on a approximately 19 Mb region of 11q23.3-qter predisposes to the development of CDH. These effects may be the primary cause of CDH in individuals t(11;22) or may be additive to effects from the duplication of chromosome 22 material. We also conclude that the partial trisomy 11q syndrome has a variable phenotype and that CDH should be added to the spectrum of anomalies that can be present in this syndrome.

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Upper airway malformation associated with partial trisomy 11q

Cited by 31 publications

References 24 publications

QF‐PCR as a stand‐alone test for prenatal samples: the first 2 years' experience in the London region

QF‐PCR as a stand‐alone test for prenatal samples: the first 2 years' experience in the London region

Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3)

Congenital diaphragmatic hernia associated with duplication of 11q23‐qter

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