De novo mosaic 46,XX,del(3)(q21q25)/46,XX karyotype in a patient with BPES [2]

Genetic Counseling

Volumn 13, Issue 3, 2002, Pages 359-361

  Engelen, J J M ^a   De Die Smulders, C E M ^a   Back, E ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CASE REPORT; CHROMOSOME 7P; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CONGENITAL DISORDER; FEMALE; HUMAN; INFANT; KARYOTYPE 46,XX; KARYOTYPING; LETTER; SMITH LEMLI OPITZ SYNDROME;

BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHROMOSOMES, HUMAN, PAIR 7; EYELIDS; FEMALE; GENES, DOMINANT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MOSAICISM; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0036393278     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (13)

1. Bianchi D.W., Cirillo-Silengo M., Luzatti L., Greenstein R.M.: Interstitial deletion of the short arm of chromosome 7 without craniosynostosis. Clin. Genet., 1981, 19, 456-461.
2. Chandler K.E., De Die-Smulders C.E.M., Engelen J.J.M., Schrander J.J.P: Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion. Eur. J. Pediatr., 1997, 156, 636-638.
3. Crisponi L., Deiana M., Loi A., Chiappa F., Uda M., Amati P, Bisceglia L., Zelante L., Nagaraja R., Porcu S., Ristaldi M.S., Marzella R., Rocchi M., Nicolino M., Lienhardt-Roussie A., Nivelon A., Verloes A., Schlessinger D., Gasparini P., Bonneau D., Cao A., Pilia G.: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet., 2001, 27, 159-166.
4. De Almeida J.C.C., Llerena J.C., Neto J.B.G., Jung M., Nastins R.R.: Another example favoring the location of BPES at 3q2. J. Med. Genet., 1993, 30, 86.
5. De Baere E., Dixon M.J., Small K.W., Jabs E.W., Leroy B.P., Devriendt K., Gillerot Y., Mortier G., Meire F., Van Maldergem L., Courtens W., Hjalgrim H., Huang S., Liebaers I., Van Regemorter N., Touraine P, Praphanphoj V., Ver-Loes A., Udar N., Yellore V., Chalukya M., Yelchits S., De Paepe A., Kuttenn F., Fellous M., Veitia R., Messiaen L.: Spectrum of FOXL2 gene mutations in BPES families demonstrates a genotype-phenotype correlation. Hum. Mol. Genet., 2001, 10, 1591-1600.
6. De Die-Smulders C.E.M., Engelen J.J.M., Donk J.M., Fryns J.P.: Further evidence for the location of the BPES gene at 3q2. J. Med. Genet., 1991, 28, 725.
7. Dollfus H., Kumaramanickavel G., Biswas P., Stoetzel C., Quillet R., Denton M., Maw M., Perrin-Schmitt F.: Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus heterogeneity of BPES at 3q22. J. Med. Genet., 2001, 38, 470-472.
8. Fukushima Y, Wakui K., Nishida T., Ueoka Y: Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3:4)(q23;p15.2)]: possible assignment of the trait to 3q23. Am. J. Med. Genet., 1991, 40, 485-487.
9. Jewett T., Rao P.N., Weaver R.G., Steward W., Thomas I.T., Pettinati M.J.: 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., 1993, 47, 1147-1150.
10. Maw M., Kar B., Biswas J., Biswas P., Nancarrow D., Bridges R., Kumaramanickavel G., Denton M., Badrinath S.S.: Linkage of blepharophimosis syndrome in a large indian pedigree to chromosome 7p. Hum. Molec. Genet., 1996, 5, 2049-2054.
11. Warburg M., Bugge M., Brondum-Nielsen K.: Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J. Med. Genet., 1995, 32, 19-24.
12. Yamakawa K., Takahashi E., Saito H., Sato T., Oshimura M., Hori T., Nakamura Y.: Isolation and mapping of 75 new DNA markers on human chromosome 3. Genomics, 1991, 9, 536-543.
13. Zlotogora J., Sagi M., Cohen T.: The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am. J. Hum. Genet., 1983, 35, 1020-1027.