Partial Trisomy 2q(2q37.3 → qter) and Monosomy 7q(7q34 → qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report

Journal of Korean Medical Science

Volumn 18, Issue 1, 2003, Pages 112-113

  Ahn, Jun Mo ^a   Koo, Do Hyeong ^a   Kwon, Kye Won ^a   Lee, You Kyoung ^a   Lee, Yong Ho ^a,b   Lee, Hae Hyeog ^a   Nam, Kye Hyun ^a   Lee, Kwon Hae ^a  

^a Soonchunhyang University College of Medicine   (South Korea)

^b Korea University Ansan Hospital   (South Korea)

Author keywords

Chromosomes, Human, Pair 2; Monosomy 7q; Prenatal Diagnosis; Translocation 2,7; Trisomy 2q

Indexed keywords

ABORTION; ADULT; AMNIOCENTESIS; ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME 7Q; CHROMOSOME NUMBER; CLEFT LIP FACE PALATE; CLINICAL EXAMINATION; CLINICAL FEATURE; CYTOGENETICS; DISEASE COURSE; DISEASE SEVERITY; FACE DYSMORPHIA; FATHER; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS MONITORING; FIRST TRIMESTER PREGNANCY; HUMAN; KARYOTYPE; LABORATORY TEST; MALE; MONOSOMY 7; NEUROANATOMY; NEWBORN; PARENT; PARTIAL TRISOMY; PATERNITY; PERINATAL PERIOD; PHENOTYPE; PHYSICAL EXAMINATION; PRENATAL PERIOD; RECIPROCAL CHROMOSOME TRANSLOCATION; ULTRASOUND; X CHROMOSOME; Y CHROMOSOME; CHROMOSOME 2; CHROMOSOME 7; CHROMOSOME DISORDER; CONGENITAL MALFORMATION; FETUS DISEASE; GENE TRANSLOCATION; GENETICS; MONOSOMY; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PREGNANCY; PRENATAL DEVELOPMENT; RECURRENT ABORTION; THERAPEUTIC ABORTION; TRISOMY; ULTRASTRUCTURE;

ABNORMALITIES, MULTIPLE; ABORTION, HABITUAL; ABORTION, THERAPEUTIC; ADULT; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; FETAL DISEASES; FETUS; HUMANS; MALE; MONOSOMY; PHENOTYPE; PREGNANCY; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0141924193     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.2003.18.1.112     Document Type: Article

References (7)

1. Schinzel A. Human Cytogenetic Database. Oxford Medical Database Series. Oxford: Oxford University Press, Electronic Publishing; 1994.
2. Matos A, Nogueira A, Criado B, Pereira S, Castedo S, Montenegro N. Prenatal diagnosis of partial trisomy 2q. Case report. Prenat Diagn 1997; 17: 874-6.
3. Ricci N, Dallapiccola B, Cotti G. Familial translocation 2-D. Ann Genet 1968; 11: 111-3.
4. Romain DR, Mackenzie NG, Moss D, Columbano-Green LM, Smythe RH, Parfitt RG, Dixon JW. Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35). J Med Genet 1994; 31: 652-3.
5. Moller M, Garcia-Cruz D, Rivera H, Sanchez-Corona J, Cantu JM. Pure monosomy and trisomy 2q24.2-q31.05 due to an inv ins(7;2) (q21.2;q3105q24.2) segregating in four generations. Hum Genet 1984; 68: 77-86.
6. De Grouchy J, Turleau C. Atlas des Maladies Chromosomiques. 2nd ed. Paris: Expansion Scientifique Francaise; 1982.
7. Barnicoat AJ, Abusaad I, Mackie CM, Robards MF. Two sibs with partial trisomy 2q. Am J Med Genet 1997; 70: 166-70.