SCOPUS 정보 검색 플랫폼

Clinical Genetics

Volumn 59, Issue 2, 2001, Pages 128-130

Recombinant Down syndrome: A case report and literature review

(3) Lazzaro, S J a Speevak, a Farrell, S A a

a CREDIT VALLEY HOSPITAL (Canada)

Author keywords

Counselling; Down syndrome; Human chromosome 21; Pericentric inversion; Recombinant chromosome

Indexed keywords

ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 21; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DOWN SYNDROME; FACIES; FATHER; FEMALE; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; KARYOTYPE; MEDICAL LITERATURE; MOTHER; NEWBORN; PRIORITY JOURNAL; PROGENY; PROGNOSIS; RECURRENCE RISK; SHORT STATURE; TRISOMY 21;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INVERSION, CHROMOSOME; MALE; PHENOTYPE; TRISOMY;

EID: 0035099418 PISSN: 00099163 EISSN: None Source Type: Journal
DOI: 10.1034/j.1399-0004.2001.590211.x Document Type: Article

Times cited : (10)

References (7)

1
- 0003870481
- 2nd edn. New York: Raven Press
- (1991) The AGT cytogenetics manual
- Barch, M.J.¹

2
- 0022469919
- Six cases of partial duplication-deficiency 21 syndrome: 21(dupq22delp23) due to maternal pericentric inversion: Inv(21)(p12;q22)
- (1986) Ann Genet , vol.29 , pp. 177-180
- Fraisse, J.¹ Philip, T.² Bertheas, M.F.³ Lauras, B.⁴

3
- 0005867365
- Chromosome abnormalities and genetic counselling. 2nd edn. New York: Oxford University Press 149-152
- (1996) , pp. 244-252
- Gardner, R.J.M.¹ Sutherland, G.R.²

4
- 0022536975
- Two Down syndrome patients with rec(21),dupq,inv(21)-(p11;q2109) from a familial pericentric inversion
- (1986) Ann Genet , vol.29 , pp. 181-183
- Leonard, C.¹ Gautier, M.² Sinet, P.M.³ Selva, J.⁴ Huret, J.L.⁵

5
- 0023502395
- A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess
- (1987) Clin Genet , vol.32 , pp. 383-387
- Miyazaki, K.¹ Yamanaka, T.² Ogasawara, N.³

6
- 1842326220
- Prenatal exclusion of segmental trisomy in familial chromosome 21 pericentric inversion by fluorescence in situ hybridization
- (1997) Prenat Diag , vol.17 , pp. 871-873
- Tardy, E.P.¹ Toth, A.² Kosztolanyi, G.³

7
- 0001650616
- Down syndrome and other autosomal trisomies
- Rimoin DI, Connor JM, Pyeritz RE, eds. Principles and Practice of Medical Genetics, 3rd edn. New York: Churchchill Livingstone
- (1996) , pp. 930-940
- Tolmie, J.L.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.