Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case

Acta Paediatrica Taiwanica

Volumn 45, Issue 2, 2004, Pages 97-99

  Hwu, Wuh Liang ^a   Kuo, Pao Lin ^b   Hung, Yeh Ting ^a   Chien, Yin Hsiu ^a   Chu, Shao Yin ^c  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

^c BUDDHIST TZU CHI GENERAL HOSPITAL   (Taiwan)

Author keywords

Congenital hydrocephalus; Hypogammaglobulinemia; Trisomy 1q

Indexed keywords

ARTICLE; BROAD NOSE BRIDGE; CASE REPORT; CHROMOSOME 11; CHROMOSOME 1Q; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME TRANSLOCATION 1; CONGENITAL HYDROCEPHALUS; EAR MALFORMATION; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPOGAMMAGLOBULINEMIA; KARYOTYPE 46,XY; LOW SET EAR; MALE; MULTICOLOR FLUORESCENCE IN SITU HYBRIDIZATION; NEWBORN; NOSE MALFORMATION; PALPEBRAL FISSURE ANOMALY; TESTIS; TESTIS HYPOPLASIA; THUMB DIGITALIZATION; THUMB MALFORMATION; TRISOMY; TRISOMY 1Q;

ABNORMALITIES, MULTIPLE; AGAMMAGLOBULINEMIA; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 11; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; HYDROCEPHALUS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, LOW BIRTH WEIGHT; INFANT, NEWBORN; INFANT, PREMATURE; KARYOTYPING; MALE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 3142731937     PISSN: 16088115     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Flatz S, Fonatsch C. Partial trisomy lq due to tandem duplication. Clin Genet 1979; 15:541-2.
2. Duba HC, Erdel M, Loffler J, et al. Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridization in a boy with multiple malformations: further delineation of the trisomy 1q syndrome. J Med Genet 1997; 34:309-13.
3. Chia NL, Bousfield LR, Poon CCS, et al. Trisomy (1q) (q42-qter): confirmation of a syndrome. Clin Genet 1988; 34:224-9.
4. Concolino D, Cinti R, Ferrano L, et al. Partial trisomy 1 (q42-qter): a new case with a mild phenotype. J Med Genet 1998; 35:75-7.
5. Schinzel A. Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1; 7) (q32; q34). Am J Med Genet 1984; 18:153-61.
6. van Haelst MM, Eussen HJ, Visscher F, et al. Silver-Russell phenotype in a patient with pure trisomy 1q32. 1-q42.1: further delineation of the pure 1q trisomy syndrome. J Med Genet 2002; 39:582-5.
7. Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, et al. 11q-syndrome: three cases and a review of the literature. Genet Counseling 1999; 10:305-13.
8. Fryns JP, Klezkowska A, Buttiens M, et al. Distal 11q monosomy: the typical 11q monosomy syndrome is due to deletion of subband 11q24.1. Clin Genet 1986; 30: 255-60.