Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia

American Journal of Medical Genetics

Volumn 77, Issue 2, 1998, Pages 162-165

  Lemyre, E ^a   Lemieux, N ^a   Decarie J C ^a   Lambert, M ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Anophthalmia; BMP 4; Chromosome 14; Interstitial deletion; Pituitary hypoplasia

Indexed keywords

ANOPHTHALMIA; ARTICLE; BONE RADIOGRAPHY; BRAIN CORTEX ATROPHY; CASE REPORT; CHROMOSOME 14Q; CRANIOFACIAL SYNOSTOSIS; EXTERNAL AUDITORY CANAL; FACE ASYMMETRY; FEMALE; HUMAN; HYPOPHYSIS DISEASE; HYPOPLASIA; INTERSTITIAL CHROMOSOME DELETION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETROGNATHIA; SPINE MALFORMATION;

EID: 0032079397     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980501)77:2<162::AID-AJMG10>3.0.CO;2-L     Document Type: Article

References (11)

1. Bennett CP, Betts DR, Seller MJ (1991): Deletion 14(q22-q23) associated with anophthalmia, absent pituitary, and other abnormalities. J Med Genet 28:280-281.
2. Clementi M, Turolla L, Mammi I, Tenconi R (1992): Clinical anophthalmia: An epidemiological study in northeast Italy based on 368,256 consecutive births. Teratology 46: 551-553.
3. Elliott J, Maltby EL, Reynolds B (1993): A case of deletion 14(q22.1q22.3) associated with anophthalmia and pituitary abnormalities. J Med Genet 30:251-252.
4. Francis-West PH, Tatla T, Brickell P4M (1994): Expression patterns of the BMP-4 and BMP-2 in the developing chick face suggest a role in outgrowth of the primordia. Dev Dyn 201:168-178.
5. Jones CM, Lyons KM, Hogan BLM (1991): Involvement of BMP-4 and Vgr-1 in morphogenesis and neurogenesis in the mouse. Development 111:531-542.
6. Keppen LD, Brodsky MC, Michael JM, Poindexter AR (1990): Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia. Am J Med Genet 36:285-287.
7. Leichtman LG, Wood B, Rohn R (1994): Anophthalmia, cleft lip/palate, facial anomalies and CNS anomalies and hypothalamic disorder in a newborn: A midline development field defect. Am J Med Genet 50:39-41.
8. Papalopulu N, Kintner C (1996): A Xenopus gene, Xbr-1, defines a novel homeobox gene and is expressed in the dorsal ciliary margin of the eye. Dev Biol 74:104-114.
9. Phadke SR, Sharma AK, Agarwal SS (1994): Anophthalmia with cleft palate and micrognathism: A new syndrome? J Med Genet 31:960-961.
10. Piccolo S, Sasai Y, Lu B, Do Robertis EM (1996): Dorsoventral patterning in Xenopus: Inhibition of ventral signals by direct binding of chordin to BMP-4. Cell 86:589-598.
11. Stoll C, Alembik Y, Dott B, Roth MP (1992): Epidemiology of congenital eye malformations in 31,760 consecutive births. Ophthalmic Paediatr Genet 13:179-186.