Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: A new variant without phenotypic effect [8]

Journal of Medical Genetics

Volumn 38, Issue 10, 2001, Pages 723-726

  Willatt, L ^a   Green, A J ^a   Trump, D ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

RIBOSOME RNA; SATELLITE DNA;

ACROCENTRIC CHROMOSOME; ADOLESCENT; CHROMOSOMAL LOCALIZATION; CHROMOSOME 12; CHROMOSOME ANALYSIS; CHROMOSOME NOR; DNA SEQUENCE; FAMILY HISTORY; FEMALE; GENE DELETION; HUMAN; INHERITANCE; KARYOTYPE; LETTER; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; Y CHROMOSOME;

BODY HEIGHT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 12; DNA, SATELLITE; FEMALE; FETAL DEATH; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; MUTATION; NUCLEOLUS ORGANIZER REGION; PEDIGREE; PHENOTYPE; PREGNANCY; TELOMERE; TRANSLOCATION, GENETIC; VARIATION (GENETICS);

EID: 0034790956     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (36)

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2. Assignment of human satellite I DNA as revealed by fluorescent in situ hybridisation with oligonucleotides
3. Chromosomal localisation of human satellites 2 and 3 by a FISH method using oligonucleotides as probes
4. Localisation of the genes coding for 18S and 28S ribosomal RNA in the human genome
5. A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes
6. The identification of Y chromosome translocations following distamycin A treatment
7. A 15p+ variant shown to be a t(Y;15) with fluorescence in situ hybridisation
8. A satellited chromosome 2 detected at prenatal diagnosis
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12. Six cases of satellited long arm of chromosome 2 detected during prenatal chromosome diagnosis
13. Fishing for the origin of satellite on the long arm of chromosome 4
14. A satellited 17p with telomere deleted and no apparent clinical consequence
15. Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent
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17. A familial insertion involving an active nucleolar organiser within chromosome 12
18. Nucleolus organiser regions (NORs) inserted in 6q15
19. The presence of interstitial telomeric sequences in constitutional chromosome abnormalities
20. Interstitial insertion of NORs into Yq and 22q: Two case studies
21. An interstitial nucleolus organiser region in the long arm of chromosome 7: Cytogenetic characterisation and familial segregation
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23. Prenatal diagnosis of inherited satellited non-acrocentric chromosomes
24. Mapping human telomere regions with YAC and P1 clones: Chromosome specific markers for 27 telomeres including 149 STSs and 24 polymorphisms for 14 proterminal regions
25. The cri du chat syndrome. Epidemiology, cytogenetics and clinical features
26. Partial translocation of NOR and its activity in a balanced carrier and her cri-du-chat fetus
27. Interstitial deletion of 4q35 in a familial satellited 4q in a child with developmental delay
28. Craniorachischisis in a fetus with familial satellited 4q
29. Patterns of silver staining of human chromosomes
30. Mitotic recombination among acrocentric chromosomes short arms
31. Sequence analysis of 8.3kb of DNA adjacent to the distal side of the human ribosomal gene
32. A methylated human 9-kb repetitive sequence on acrocentric chromosomes is homologous to a subtelomeric repeat in chimpanzees
33. The FSHD-associated repeat D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes