A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: A case report

Genetic Counseling

Volumn 21, Issue 1, 2010, Pages 99-108

  Mundhofir, F E P ^a,b   Kooper, A J A ^b   Winarni, T I ^a   Smits, A P T ^b   Faradz, S M H ^a   Hamel, B C J ^b  

^a Faculty of Medicine   (Indonesia)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

22)(p22; Q11.21), partial trisomy chromosomes 8 and 22 3:1 meiotic segregation; Supernumerary marker chromosome, der(22)t(8

Indexed keywords

ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME 22; CHROMOSOME 22Q; CHROMOSOME 8; CHROMOSOME 8P; CHROMOSOME ANALYSIS; CHROMOSOME MARKER; CLINODACTYLY; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEGREGATION; HEAD CIRCUMFERENCE; HETEROZYGOTE; HUMAN; KARYOTYPING; MALE; MEIOSIS; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROGNATHIA; NAIL HYPOPLASIA; PHYSICAL EXAMINATION; PRESCHOOL CHILD; RECIPROCAL CHROMOSOME TRANSLOCATION; SINGLE NUCLEOTIDE POLYMORPHISM; SMALL CHROMOSOME 22; SPEECH DISORDER; SPONTANEOUS ABORTION; TRISOMY;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 8; FACIAL BONES; FAMILY HEALTH; HUMANS; MALE; MENTAL RETARDATION; PEDIGREE; SKULL; TRANSLOCATION, GENETIC; TRISOMY;

EID: 77950810509     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

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