Trisomy 2q Syndrome (q33-qter)
General: Associated with monosomy 9p (p24-pter); autosomal recessive or X-l 737h76h inked inheritance.
Ocular: Congenital glaucoma; hypertelorism; epicanthus.
Clinical: Low-set and malformed ears; short saddle nose with anteverted nostrils; long, hypoplastic philtrum; thin upper lip; hypospadias; short fingers; muscular hypotonia; psychomotor retardation; clinodactyly; scoliosis; broad, flat nasal bridge; short neck; short esophagus; tubular stomach.
Degrouchy J, Turleau C. Clinical atlas of human chromosomes. 2nd ed. New York: John Wiley and Sons, 1984.
Katsushima H, et al. Primary congenital glaucoma in a patient with trisomy 2q and monosomy 9p. Arch Ophthalmol 1987; 105:323.
Porter J, et al. Gastrointestinal malformation in genetic disorders: a case of partial trisomy 2q with short esophagus and tubular stomach. Clin Pediatr 1991; 30:559-562.
Romain DR, et al. Partial trisomy for 2q in a patient with dir dup (2) (q33.1q35). J Med Genet 1994; 31:652-653.
Canine Tooth Syndrome (Class VII Superior Oblique Palsy) &nbs [...] |
Best Disease (Best Macular Degeneration; Vitelliruptive Macular Dystrophy; Polymorphic Macular Degeneration of Braley; Vitelliform Dystr [...] |
Haney-Falls Syndrome (Congenital Keratoconus Posticus Circumscriptus Syndrome) 5 General: Etiology unknown; autosomal domi [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
