Duplication of 16q22--&gt;qter confirmed by fluorescence in situ hybridisation and molecular analysis.

Houlston, Richard S.; Renshaw, R M; James, Rowena S.; Ironton, R; Temple, I. Karen

doi:10.1136/jmg.31.11.884

Cited by 27 publications

(25 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In cases 9 and 10, the 8p deletion was concurrent with a duplication of 16q24, which per se does not associate with CHDs. 18 Thus, in these cases, CHDs are likely due to del 8p.…”

Section: Discussionmentioning

confidence: 88%

Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects

et al. 2000

View full text Add to dashboard Cite

Background-Cytogenetic evidence suggests that the haploinsufficiency of Ն1 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, atrioventricular canal defects, and pulmonary valve stenosis. An 8p heart-defect-critical region was delineated, and the zinc finger transcription factor GATA4 was considered a likely candidate for these defects. We narrowed this region and excluded a major role of GATA4 in these CHDs. Methods and Results-We studied 12 patients (7 had CHD and 5 did not) with distal 8p deletions from 9 families by defining their chromosome rearrangements at the molecular level by fluorescent in situ hybridization and short-tandem repeat analysis. Subjects with 8p deletions distal to D8S1706, at Ϸ10 cM from the 8p telomere, did not have CHD, whereas subjects with a deletion that included the more proximal region suffered from the spectrum of heart defects reported in patients with 8p distal deletions. The 5-cM critical region is flanked distally by D8S1706 and WI-8327, both at Ϸ10 cM, and proximally by D8S1825, at 15 cM. Neither GATA4 nor angiopoietin-2 (ANGPT2; a gene in 8p23 involved in blood vessel formation) were found to be deleted in some of the critical patients. We also found that CHDs are not related to the parental origin of deletion. Conclusions-Haploinsufficiency for a gene between WI-8327 and D8S1825 is critical for heart development. A causal relationship does not seem to exist between GATA4 and ANGPT2 haploinsufficiency and CHDs. (Circulation. 2000;102:432-437.)

show abstract

“…In cases 9 and 10, the 8p deletion was concurrent with a duplication of 16q24, which per se does not associate with CHDs. 18 Thus, in these cases, CHDs are likely due to del 8p.…”

Section: Discussionmentioning

confidence: 88%

Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects

et al. 2000

View full text Add to dashboard Cite

show abstract

“…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: 92%

“…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: 91%

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

et al. 2002

View full text Add to dashboard Cite

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.

show abstract

“…Up to now, only a handful of cases involving duplications of 16q22-qter have been reported among liveborns (13)(14)(15)(16)(17). A few cases of duplications (16q23-qter; 16q24-qter) have been reported (18)(19)(20).…”

Section: Discussionmentioning

confidence: 96%

ATR-16 Due to A De Novo Complex Rearrangement of Chromosome 16

Gallego¹,

Zelaya²,

Feliú³

et al. 2005

LHEM

View full text Add to dashboard Cite

We describe a child with ATR-16 [alpha-thalassemia (thal)/mental retardation], who was referred for genetic evaluation because of minor anomalies and developmental delay. Cytogenetic analysis demonstrated a de novo complex rearrangement of chromosome 16. Fluorescence in situ hybridization (FISH) analysis, using chromosome 16 subtelomeric probes, showed that this patient had a deletion of the distal short arm of chromosome 16 that contains the alpha-globin genes and a duplication of 16q. Analysis of the alpha-globin locus by Southern blot showed a half normal dose of the alpha-globin gene. Microsatellite marker studies revealed that the duplicated 16q region was maternal in origin. Hematological studies revealed anemia, hypochromia and occasional cells with Hb H inclusion bodies. A hematological screening for alpha-thal should be considered in patients with mild developmental delay and a suggestive phenotype of ATR-16 with microcytic hypochromic anemia and normal iron status. The stellate pattern of the iris, a new finding in our patient, may contribute to a better clinical delineation of both syndromes, ATR-16 and/or duplication of 16qter.

show abstract

Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

Cited by 27 publications

References 18 publications

Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects

Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects

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

ATR-16 Due to A De Novo Complex Rearrangement of Chromosome 16

Contact Info

Product

Resources

About