A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

Yen, Fu-Sun; Podruch, Philip E.; Weisskopf, Bernard

doi:10.1136/jmg.26.2.130

Cited by 26 publications

(10 citation statements)

References 3 publications

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“… a The details of the facial dysmorphic features have not been described for patients 8–11 [Zollino et al, 2009]. Patients: 1, Le Meur et al [2005]; 2, Karnitis et al [1992]/Byth et al [1995] (Patient 1); 3, Yen et al [1989]/Byth et al [1995] (Patient 2); 4, Present case; 5, Schlade‐Bartusiak et al [2008]; 6, Byth et al [1995] (Patient 3); 7, Schlade‐Bartusiak et al [2005]; 8, Zollino et al [2009] (Patient 25); 9, Zollino et al [2009] (Patient 24); 10, Zollino et al [2009] (Patient 22); 11, Zollino et al [2009] (Patient 26). …”

Section: Introductionmentioning

confidence: 99%

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Cingoz

Bache

Bjerglund

et al. 2010

American J of Med Genetics Pt A

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Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.

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Section: Introductionmentioning

confidence: 99%

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Cingoz

Bache

Bjerglund

et al. 2010

American J of Med Genetics Pt A

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“…The occurrence of deletions on chromosome 14 or 20 is rare. There have been reports on a few cases of the deletion of chromosome 14q (Hreidarsson & Stamberg 1983, Yamamoto et al 1986, Masada et al 1989, Yen et al 1989, Telford et al 1990, Gorski et al 1990) and the deletion of chromosome 20p (Kalousek & Therien 1976, Kogame et al 1978, Vianna-Morgante et al 1987, Schnittger et al 1989, Anad et al 1990, Legius et al 1990, Zhang et al 1990, Shohat et al 1991. However, there have been no reports of cases in which there were simultaneous deletions in one individual.…”

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confidence: 99%

A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p

et al. 1993

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This is a case report on an infant with de novo terminal deletions on the long arm of chromosome 14 and on the short arm of chromosome 20 [46, XX, del(14)(q32)del(20)(p11)]. Examination revealed that the infant had a peculiar face, a cleft and high palate, abnormal dentition, butterfly-like vertebral defects, finger anomalies, a simian line on the left hand, talipes equinovarus, deep plantar furrows, abnormally high values of alkali phosphatase and lactate dehydrogenase, mild anemia and psychomotor retardation. Comparing the present case with previously reported cases of a single deletion on chromosome 14q or chromosome 20p, the infant showed some symptomatic and dysmorphic features of both deletions.

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“…Cases of either partial 14qmonosomy or 20q-trisomy have rarely been described. Frequent findings in individuals with partial 14q-monosomy are facial dysmorphism, limb abnormalities, scoliosis, congenital heart defects and genitourinary abnormalities (Yen et al 1989). Facial dysmorphism and congenital heart defects…”

Section: Discussionmentioning

confidence: 99%

A case of human chimerism detected by unbalanced chromosomal translocation

1992

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Chimerism in humans is usually found only because of discrepancies in unique blood group typing or sex chromosome complements. We describe a case found because of an inherited chromosomal translocation. A female carrier of the balanced reciprocal translocation t(14;20)(q31; q13.3) had a twin pregnancy. After birth the B‐twin, a girl, was found to have the balanced translocation. The A‐twin, a severely malformed and stillborn boy, had two different karyotypes; a normal 46,XY and an unbalanced translocation derivative 46,XY, – 14, + der(14)t(14;20)(q31;q13.3). He was a dispermic chimera, formed by two fertilized oocytes.

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A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

Abstract: A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation

Cited by 26 publications

References 3 publications

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p

A case of human chimerism detected by unbalanced chromosomal translocation

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