Newborn with malformations and a combined duplication of 9pter‐q22 and 16q22‐qter resulting from unbalanced segregation of a complex maternal translocation

Piram, Adriana; Ortolan, Daniela; Peres, Luis Cesar; Neto, João Monteiro de Pina; Riegel, Mariluce; Schinzel, Albert

doi:10.1002/ajmg.a.10004

Cited by 9 publications

(7 citation statements)

References 8 publications

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“…The present case prenatally demonstrated IUGR and dolichocephaly, and postnatally manifested cleft palate, hypotonia, congenital heart defects, a subependymal cyst, hypospadia, and characteristic craniofacial dysmorphism of trisomy 16q. To our knowledge, only nine cases of partial trisomy 16q (16q22→qter) have been reported in the literature (Rethoré et al, 1982;Calva et al, 1984;Knapp and Zunich, 1985;Nyhan et al, 1989;Bianchi et al, 1992;Houlston et al, 1994;Piram et al, 2003). Most cases resulted from malsegregations of maternal balanced translocations or a pericentric inversion of chromosome 16.…”

Section: Discussionmentioning

confidence: 99%

“…Partial trisomy 16q (16q22→qter) is uncommon and is usually associated with a balanced translocation or pericentric inversion of chromosome 16 in the mother (Rethoré et al, 1982;Calva et al, 1984;Knapp and Zunich, 1985;Nyhan et al, 1989;Bianchi et al, 1992; Copyright  2005 John Wiley & Sons, Ltd. Piram et al, 2003). The 20q13.3 deletion, pure or translocation, is very rare (Fraisse et al, 1981;Porfirio et al, 1987;Shabtai et al, 1993;Reish et al, 1996).…”

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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“…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: 95%

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

Gallego¹,

Zelaya²,

Feliú³

et al. 2005

LHEM

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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.

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“…Clinical findings of partial trisomy 9p are associated with growth and mental retardation, ear anomalies, hypertelorism, prominent or globular nose, down-turned corners of the mouth, and hand-foot anomalies [2][3][4][5] and others suggest that the severity of clinical phenotypes associated with trisomy 9p is correlated with the extent of chromosome materials involved in the trisomy and the frequent concomitant monosomy or trisomy [4,[6][7][8][9] . The distal half of the short arm of chromosome 9 (9pter→9p21) may be responsible for the major clinical features of trisomy 9p [10] .…”

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confidence: 97%

Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly

Feng

Dai

Wang

et al. 2011

J. Huazhong Univ. Sci. Technol. [Med. Sci.]

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Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age. Many chromosomal diseases come with mental retardation. We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy, clinical features of mental retardation and mild facial and pinkie anomalies. In the family 1, we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis. Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171, an interval of about 2.9 Mb on 9p21.3, and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446, a region of about 1.5 Mb on 21q22.3. In the family 2, a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter, and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother. Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33. Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family. These results further implicate that trisomy 9p is associated with mental retardation, and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly. This result has been applied successfully in prenatal diagnosis of the second family.

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Newborn with malformations and a combined duplication of 9pter‐q22 and 16q22‐qter resulting from unbalanced segregation of a complex maternal translocation

Cited by 9 publications

References 8 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)

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

Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly

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