Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism.

No abstract is available for this paper.

• Publication year

  1989

• Venue

  American journal of medical genetics

• Publication date

  1989-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/AJMG.1320340415PMID 2624263
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Distal duplication 14q: Report of three cases and further delineation of the syndrome

  2004cited by this paper
• Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

  1988cited by this paper
• Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

  1988cited by this paper
• Gonadal mosaicism in pseudoachondroplasia.

  1987cited by this paper
• Germinal mosaicism in Apert syndrome

  1986cited by this paper
• Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin).

  1986cited by this paper
• The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy.

  1986cited by this paper
• Distal trisomy 14q syndrome; a case report.

  1984cited by this paper
• Distal trisomy 14q syndrome; a case report

  1984cited by this paper
• Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin).

  1984cited by this paper
• Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

  1983cited by this paper
• Distal trisomy 14q due to tandem duplication (q24 leads to q32).

  1983cited by this paper
• Duplication of the distal segment of 14q.

  1983cited by this paper
• Distal monosomy 14 not associated with ring formation.

  1983cited by this paper
• Partial trisomy 14q24 leads to qter.

  1983cited by this paper
• Tandem duplication of chromosome 14 (q24 leads to q32) in male newborn with congenital malformations.

  1983cited by this paper
• Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents

  1983cited by this paper
• Tandem duplication of chromosome 14 (q24+q32) in male newborn with congenital malformations

  1983cited by this paper
• [Distal trisomy 14q associated with agenesis of the corpus callosus and truncus arteriosus due to the maternal translocation t(5;14)(q13;q23q32) (author's transl)].

  1981cited by this paper
• Possible gonadal mosaicism in a family with hemoglobin Köln.

  1980cited by this paper
• A child trisomic for the distal part of chromosome 14q.

  1980cited by this paper
• Deletion 14q and pericentric inversion 14.

  1978cited by this paper
• Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter).

  1977cited by this paper
• Partial trisomy 14q due to familial t(14q-, 11q+) translocation

  1977cited by this paper
• Spontaneous mutation in man.

  1975cited by this paper
• Recurrence risks for germinal mosaics.

  1971cited by this paper

• Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.

  2022cites this paper
• A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review

  2021cites this paper
• Terminal 14q Deletion and Duplication with Gastrointestinal and Pulmonary Disease

  2016cites this paper
• 14q32.3-qter trisomic segment: a case report and literature review

  2016influential citation
• Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication.

  2016cites this paper
• Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements

  2016cites this paper
• Correlación cariotipo - fenotipo en un paciente con delecion 14q32. Correlation kariotype- phenotype in a patient with 14q32 deletion.

  2014cites this paper
• Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry.

  2013cites this paper
• Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints.

  2013cites this paper
• A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome

  2012cites this paper
• A phenotype map for 14q32.3 terminal deletions

  2012cites this paper
• 14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure

  2011cites this paper
• A clinical report and further delineation of the 14q32 deletion syndrome

  2011cites this paper
• Array CGH defined interstitial deletion on chromosome 14: a new case

  2010cites this paper
• Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

  2010cites this paper
• Identification of genomic loci contributing to agenesis of the corpus callosum

  2010cites this paper
• A child with terminal 14q deletion syndrome: Consideration of genotype–phenotype correlations

  2009cites this paper
• Prenatal diagnosis of partial trisomy 14q (14q31.1-->qter) and partial monosomy 5p (5p13.2-->pter) associated with polyhydramnios, short limbs, micropenis and brain malformations.

  2009cites this paper
• Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

  2008cites this paper
• Mental retardation and developmental delay due to mosaic chromosome 14q duplication.

  2008cites this paper
• Genetic Factors in Congenital Diaphragmatic Hernia Overview of Normal and Abnormal Diaphragm Development

  2007influential citation
• Genetic factors in congenital diaphragmatic hernia.

  2007cites this paper
• Genetic Factors in the Etiology of Congenital Diaphragmatic Hernia

  2007cites this paper
• Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula.

  2007cites this paper
• Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.

  2007cites this paper
• Imprinted genes and their role in human fetal growth

  2006cites this paper
• A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

  2005cites this paper
• Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q

  2005cites this paper
• Where to look for the genes related to diaphragmatic hernia?

  2003cites this paper
• Further delineation of the chromosome 14q terminal deletion syndrome.

  2002cites this paper
• 14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies.

  2000cites this paper
• An adult patient with a distal interstitial 14q deletion: clinical report and literature review.

  2000cites this paper
• Mouse Peg9/Dlk1 and human PEG9/DLK1 are paternally expressed imprinted genes closely located to the maternally expressed imprinted genes: mouse Meg3/Gtl2 and human MEG3

  2000cites this paper
• Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.

  2000cites this paper
• Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.

  1998cites this paper
• Unbalanced karyotype, dup 14(q13‐q22), in a mother and her two children

  1996cites this paper
• Molecular analysis redefines three human chromosome 14 deletions

  1995cites this paper
• De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

  1994cites this paper
• Mosaicism with a normal cell line and an autosomal structural rearrangement.

  1994cites this paper
• A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p

  1993cites this paper
• Opposite imbalances of distal 14q in two unrelated patients.

  1992cites this paper
• [Importance of germ cell mosaic for genetic counseling of families with Duchenne and Becker muscular dystrophy].

  1991cites this paper
• Bedeutung des Keimzellmosaiks für die genetische Beratung von Familien mit Muskeldystrophie Duchenne und Becker

  1991cites this paper
• Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

  1990cites this paper