Subtle trisomy 12q24.3 and Subtle monosomy 22q13.3: Three new cases and review

American Journal of Medical Genetics

Volumn 122 A, Issue 2, 2003, Pages 119-124

  Rodríguez, Laura ^a,e   Martínez Guardia, Nieves ^b   Herens, Christian ^f   Jamar, Mauricette ^f   Verloes, Alain ^c   López, Fermina ^a   Santos Muñoz, José ^b   Martínez Frías, María Luisa ^a,d  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b HOSPITAL SEVERO OCHOA   (Spain)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^e CIAC   (Spain)

^f NONE

Author keywords

FISH; High resolution G bands; Subtelomeric probes; Subtle 12q trisomy; Subtle 22q monosomy

Indexed keywords

ARACHNODACTYLY; CASE REPORT; CHILD; CHROMOSOME 12Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME G BAND; DEVELOPMENTAL DISORDER; EYEBROW; FACE DEFORMITY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HETEROZYGOTE; HIGH RESOLUTION G BAND KARYOTYPE; HUMAN; HUMAN CELL; KARYOTYPE; LIMB MALFORMATION; LIP MALFORMATION; MALE; MONOSOMY; MONOSOMY 22Q; MUSCLE HYPOTONIA; PHENOTYPE; PHILTRUM; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; REVIEW; TELOMERE; TRISOMY 12;

EID: 17344394940     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20243     Document Type: Review

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