8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism

Genetic Counseling

Volumn 22, Issue 4, 2011, Pages 353-363

  Lipska, B S ^a   Brzeskwiniewicz, M ^a   Wierzba, J ^a   Morzuch, L ^a   Piotrowski, A ^a   Limon, Janusz ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

4q21; Absent speech; BMP3; Brachydactyly; Hearing loss; PRKG2; RASGEFIB; Skeletal abnormalities

Indexed keywords

ADOLESCENT; APNEA; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CERVICAL SPINE; CLEFT LIP; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; CRYPTORCHISM; DNA EXTRACTION; FACE DYSMORPHIA; FEEDING DISORDER; FETUS DISTRESS; GAIT DISORDER; GASTROESOPHAGEAL REFLUX; HEARING LOSS; HUMAN; HUMAN TISSUE; INTERSTITIAL CHROMOSOME DELETION; INTERVERTEBRAL DISK HERNIA; INTRAUTERINE GROWTH RETARDATION; MALE; MATERNAL HYPERTENSION; MENTAL DEFICIENCY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEUROFIBROMA; NEUROLOGIC EXAMINATION; NOSE SEPTUM; NYSTAGMUS; ORCHIDOPEXY; PALATE DISEASE; PROLONGED PREGNANCY; RESPIRATORY DISTRESS; SCOLIOSIS; SHORT STATURE; SKELETON MALFORMATION; SPEECH DISORDER; TACHYCARDIA; TORTICOLLIS; X RAY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ALLELES; BONE MORPHOGENETIC PROTEIN 3; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CLEFT LIP; CLEFT PALATE; CYCLIC GMP-DEPENDENT PROTEIN KINASES; DNA COPY NUMBER VARIATIONS; GROWTH DISORDERS; HEARING LOSS, SENSORINEURAL; HUMANS; INTELLECTUAL DISABILITY; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; RAS GUANINE NUCLEOTIDE EXCHANGE FACTORS; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84855999753     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. BONNET C., ANDRIEUX J., BERI-DEXHEIMER M., LEHEUP B., BOUTE O., MANOUVRIER S, DELOBEL B., COPIN H., RECEVEUR A., MATHIEU M., THIRIEZ G., LE CAIGNEC C., DAVID A., DE BLOIS M.C, MALAN V., PHILIPPE A., CORMIER-DAIRE V., COLLEAUX L., FLORI E., DOLLFUS H., PELLETIER V., THAVIN-ROBINET C., MASUREL-PAULET A., FAIVRE L., TARDIEU M., BAHI-BUISSON N., CALLIER P., MUGNERET F., EDERY P., JONVEAUX P., SANUVILLE D.: Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. J. Med. Genet., 2010, 47, 377-384.
2. DATHE K., KJAER K.W., BREHM A., MEINECKE P., NURNBERG P., NETO J.C., BRUNONI D., TOMMERUP N, OTT C.E., KLOPOCKI E., SEEMANN P., MUNDLOS S.: Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am. J. Hum. Genet., 2009, 84, 483-492.
3. FRIEDMAN J.M., BAROSS A., DELANEY A.D., ALLY A., ARBOUR L., ARMSTRONG L., ASANO J., BAILEY D.K., BARBER S., BIRCH P., BROWN-JOHN M., CAO M., CHAN S., CHAREST D.L., FARNOUD N., FERNANDES N., FLIBOTTE S., GO A., GIBSON W.T., HOLT R.A., JONES S.J.M., KENNEDY G.C., KRZYWINSKI M., LANGLOIS S., LI H.I., MCGILLIVRAY B.C., NAYAR T, PUGH T.J., RAJCAN-SEPAROVIC E., SCHEIN J.E., SCHNERCH A., SIDDIQUI A., VAN ALLEN M.I., WILSON G., YONG S., ZAHIR F., EYDOUX P., MARRA M.A.: Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am. J. Hum. Genet., 2006, 79, 500-513.
4. FUJIMOTO A., REDDY K.S., SPINKS R.: Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4). Am. J. Med. Genet., 1998, 75, 78-81
5. GAMER L.W., COX K., CARLO J.M., ROSEN V.: Overexpression of BMP3 in the developing skeleton alters endochondral none formation resulting in spontaneous rib fractures. Dev. Dyn., 2009, 238, 2374-2381.
6. HARADA N., NAGAI T., SHIMOKAWA O., NIIKAWA N., MATSUMOTO N.: A 4q21-q22 deletion in a girl with severe growth retardation. Clin. Genet., 2002, 67, 226-228.
7. MDZIN R., KO C., ABDUL LATIF Z., ZAKARIA Z.: Interstitial deletion of the distal long arm of chromosome 4, del(4)(q33-q35), in association with paternal balanced translocation. Singapore Med. J., 2008, 49, 336-339.
8. NOWACZYK M.J.M., TESHIMA I.E., SIEGEL-BARTELT J., CLARKE J.T.R.: Deletion 4q21/q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions. Am. J. Med. Genet., 1997, 69, 400-405.
9. PFEIFER A., ASZODI A., SEIDLER U., RUTH P., HOFMANN F., FASSLER R.: Intestinal secretory defects and dwarfism in mice lacking cGMP-dependent protein kinase II. Science, 1996, 274, 2082-2086.
10. RIDER C.C., MULLOY B.: Bone morphogenetic protein and growth differentiation factor cytokine families and their protein antagonists. Biochem. J., 2010, 429, 1-12
11. STANKOVIC K.M., ADACHI O., TSUJI K., KRISTIANSEN A.G., ADAMS J.C., ROSEN V., MCKENNA M.J.: Differences in gene expression between the otic capsule and other bones. Hear Res., 2010, 265, 83-89.
12. TEMTAMY S.A., AGLAN M.S.: Brachydactyly. Orphanet J. Rare Dis., 2008, 3, 15.
13. VELINOV M., KUPFERMAN J., GU H., MACERA M.J., BABU A., JENKINS E.C., KUPCHIK G.: Polycystic kidneys and del(4)(q21.1q21.3): further delineation of a distinct phenotype. Eur. J. Med. Genet., 2005, 45, 51-55.
14. YAMAN E., GASPER R., KOERNER C., WITTINGHOFER A., TAZEBAY U.H.: RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange, FEBS J., 2009, 276, 4607-4616.