A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty.
We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 --> q21.21) in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
C P
CP
Chen
S P
SP
Lin
Y N
YN
Su
S R
SR
Chern
F J
FJ
Tsai
P C
PC
Wu
L F
LF
Chen
W
W
Wang
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D066258:Amphiregulin; D066259:Betacellulin; D055396:Bone Morphogenetic Protein 2 / Q000235:genetics; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D003746:Dental Enamel Proteins / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D066255:EGF Family of Proteins; D016326:Extracellular Matrix Proteins; D005128:Eye Diseases / Q000151:congenital / Q000235:genetics*; D005260:Female; D006023:Glycoproteins / Q000235:genetics; D057895:Haploinsufficiency; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D011506:Proteins / Q000235:genetics; D011628:Puberty, Delayed / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*
C490889:AMBN protein, human; C507067:AMTN protein, human; C587848:AREG protein, human; D066258:Amphiregulin; C525718:BMP2 protein, human; C587851:BTC protein, human; D066259:Betacellulin; D055396:Bone Morphogenetic Protein 2; D003746:Dental Enamel Proteins; D066255:EGF Family of Proteins; C550525:ENAM protein, human; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D036341:Intercellular Signaling Peptides and Proteins; D011506:Proteins