Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion

European Journal of Pediatrics

Volumn 156, Issue 8, 1997, Pages 636-638

  Chandler, K E ^a   De Die Smulders, C E M ^a,c   Engelen, J J M ^a   Schrander, J J P ^b  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Department of Clinical Genetics ^*  (Netherlands)

Author keywords

Blepharophimosis; Chromosome deletion; Congenital laryngostenosis; Epicanthus inversus and telecanthus syndrome; Feeding difficulties; Ptosis

Indexed keywords

BARIUM; OXYGEN;

BLEPHAROPHIMOSIS; CAMPTODACTYLY; CASE REPORT; CHILD; CHROMOSOME 3Q; CYTOGENETICS; EPICANTHUS; FACE DYSMORPHIA; FEEDING DISORDER; FEMALE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; LARYNGOSCOPY; LARYNX STENOSIS; ORAL DRUG ADMINISTRATION; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PTOSIS; REVIEW; SLEEP APNEA SYNDROME; TELECANTHUS;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 3; EATING DISORDERS; ENTERAL NUTRITION; FEMALE; GENE DELETION; HUMANS; LARYNGOSTENOSIS; PHENOTYPE; SYNDROME;

EID: 0030753744     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050681     Document Type: Review

References (13)

1. Al-Awardi SA, Naguib KK, Farag TI, Teebi AS, Cuschiere A, Al-Othman SA, Sundereshan TS (1986) Complex translocation involving chromosome Y, 1 and 3 resulting in deletion of segment 3q23-q25. J Med Genet 23:91-92
2. Alvardo M, Bocian M, Walker PA (1987) Interstitial deletion of the long arm of chromosome 3: case report, review and definition of a phenotype. Am J Med Genet 27:781-786
3. Dutrillaux B, Viegas-Pequignot E (1988) High resolution R-and G-banding in the same preparation. Hum Genet 57:91-93
4. Franchescini P, Silengo P, Davi G, Bianco R, Biagoli M (1983) Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies. Hum Genet 64:97
5. Fryns JP, Stromme P, Berghe H van den (1993) Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23. Clin Genet 44:149-151
6. Fujita H, Meng J, Kawamura M, Tozuka N, Ishii F, Tanaka N (1992) Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. Am J Med Genet 44:434-436
7. Ishikiriyama S, Goto M (1993) Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? Am J Med Genet 47:487-489
8. Jewett T, Rao NR, Weaver RG, Stewart W, Thomas IT, Pettenati MJ (1993) Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23. Am J Med Genet 47:1147-1150
9. Martsolf JT, Ray M (1983) Interstitial deletion of the long arm of chromosome 3. Ann Genet 26:98-99
10. Walters M, Frangione L, Akintade A, Thomas G (1993) Interstitial deletion involving 3q22-q23 not associated with the blepharophimosis (BPES) syndrome. Appl Cytogenet 19:136
11. Warburg M, Bugge M, Brondum-Nielsen K (1995) Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet 32:19-24
12. Williamson RA, Donlan MA, Dolan CR, Thurline HC, Harrison MT, Hall JG (1981) Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1-q24 in different offspring. Am J Med Genet 9:105-111
13. Wolstenholme J, Brown J, Masters KG, Wright C, English CJ (1994) Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY, del(3)(q21q23)). J Med Genet 31:647-648