49,XXXXY syndrome

The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.



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Narrow down the case reports



Total: 31 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 15508879
 49, XXXXY syndrome.
Hou JW.
Chang Gung Med J. 2004;27(7):551-4.
Microcephaly Micrognathia
Chromosomes, Human, X Congenital Hand Deformities Congenital Heart Defects Face Fluorescent in Situ Hybridization Homo sapiens Infant Klinefelter Syndrome Male Microcephaly Sex Chromosome Disorders Syndrome
2
(41.3%)		 30031153
 Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.
Burgemeister AL, Daumiller E, du Bois G, Graul-Neumann LM, Kohler B, Knecht S, Burgemeister S, Gronwald S, Maurer MH, Zirn B.
Eur J Med Genet. 2019;62(3):210-216.
Hypotonia Radioulnar synostosis Finger clinodactyly
Child Child, Preschool Homo sapiens Klinefelter Syndrome Male Phenotype Young Adult
3
(39.7%)		 22980072
 Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.
Kidszun A, Fuchs AJ, Russo A, Bartsch M, Frey-Mahn G, Beyer V, Zechner U, Bartsch O, Mildenberger E.
Gene. 2012;508(1):117-20.
Hypotonia Radioulnar synostosis
Chromosomes, Human, X Homo sapiens Infant, Newborn Male Neonatal Screening Syndrome Upper Extremity
3
(39.7%)		 17728969
 A rare case of ambiguous genitalia.
Ng SF, Boo NY, Wu LL, Shuib S.
Singapore Med J. 2007;48(9):858-61.
Ambiguous genitalia Radioulnar synostosis
Aneuploidy Chromosomes, Human, X Genital Diseases, Male Homo sapiens Infant, Newborn Male Sex Chromosome Disorders
3
(39.7%)		 15645656
 49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism.
Okuyama S, Wakui H, Kaneko J, Masai R, Ohtani H, Komatsuda A, Sawada K.
Intern Med. 2004;43(12):1186-90.
Proteinuria Radioulnar synostosis
Adult Chromosomes, Human, X Homo sapiens Intellectual Disability Kidney Male Proteinuria Pulmonary Embolism Sex Chromosome Disorders Syndrome Venous Thrombosis
3
(39.7%)		 9610808
 49,XXXXY: a distinct phenotype. Three new cases and review.
Peet J, Weaver DD, Vance GH.
J Med Genet. 1998;35(5):420-4.
Hypogonadism Radioulnar synostosis
Child, Preschool Homo sapiens Intellectual Disability Klinefelter Syndrome Male Phenotype Sex Chromosome Aberrations
3
(39.7%)		 3575135
 [49 XXXXY syndrome. Description of 2 clinical cases].
Verotti A, Chiarelli F, Violante N, Pellegrini E, Palka G.
Pediatr Med Chir. 1986;8(4):575-8.
Hypogonadism Radioulnar synostosis
Homo sapiens Infant, Newborn Male Phenotype Sex Chromosome Aberrations Syndrome X Chromosome
8
(31.0%)		 29362687
(5775094)
 False Low-Risk Single Nucleotide Polymorphism-Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY.
Putra M, Hicks MA, Abramowicz JS.
AJP Rep. 2018;8(1):e4-e6.
Micropenis Clinodactyly
8
(31.0%)		 26000009
(4426158)
 Neonatal diagnosis of 49, XXXXY syndrome.
Etemadi K, Basir B, Ghahremani S.
Iran J Reprod Med. 2015;13(3):181-4.
Ambiguous genitalia Clinodactyly
10
(30.8%)		 24876149
 [An adult patient with 49, XXXXY syndrome: further clinical and biological delineation].
Collet A, Chatelin J, Agopiantz M, Valduga M, Bonnet C, Allou L, Lambert L, Gospodaru RN, Weryha G, Jonveaux P.
Ann Biol Clin (Paris). 2014;72(3):371-7.
Epicanthus
LHCGR
Aneuploidy Blindness Deafness Facies Homo sapiens Hypogonadism Intellectual Disability Klinefelter Syndrome Male Middle Aged
        

Phenotype(s) retrieved from Orphanet

    Total: 64

HPO ID Term Frequency
HP:0000027 Azoospermia Very frequent (99-80%)
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0000682 Abnormality of dental enamel Very frequent (99-80%)
HP:0000789 Infertility Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002463 Language impairment Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0010807 Open bite Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000046 Scrotal hypoplasia Frequent (79-30%)
HP:0000110 Renal dysplasia Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000389 Chronic otitis media Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000679 Taurodontia Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0000717 Autism Frequent (79-30%)
HP:0000771 Gynecomastia Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001763 Pes planus Frequent (79-30%)
HP:0002019 Constipation Frequent (79-30%)
HP:0002099 Asthma Frequent (79-30%)
HP:0002205 Recurrent respiratory infections Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002673 Coxa valga Frequent (79-30%)
HP:0002827 Hip dislocation Frequent (79-30%)
HP:0002974 Radioulnar synostosis Frequent (79-30%)
HP:0003042 Elbow dislocation Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0005930 Abnormality of epiphysis morphology Frequent (79-30%)
HP:0007018 Attention deficit hyperactivity disorder Frequent (79-30%)
HP:0200021 Down-sloping shoulders Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000248 Brachycephaly Occasional (29-5%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000445 Wide nose Occasional (29-5%)
HP:0000457 Depressed nasal ridge Occasional (29-5%)
HP:0000470 Short neck Occasional (29-5%)
HP:0000737 Irritability Occasional (29-5%)
HP:0000744 Low frustration tolerance Occasional (29-5%)
HP:0001337 Tremor Occasional (29-5%)
HP:0001360 Holoprosencephaly Occasional (29-5%)
HP:0001762 Talipes equinovarus Occasional (29-5%)
HP:0002020 Gastroesophageal reflux Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0002139 Arrhinencephaly Occasional (29-5%)
HP:0002204 Pulmonary embolism Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0004936 Venous thrombosis Occasional (29-5%)
HP:0005280 Depressed nasal bridge Occasional (29-5%)
HP:0005978 Type II diabetes mellitus Occasional (29-5%)
HP:0008678 Renal hypoplasia/aplasia Occasional (29-5%)
HP:0100025 Overfriendliness Occasional (29-5%)
HP:0100962 Shyness Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 22

HPO ID Term # of case reports
HP:0000126 Hydronephrosis 3
HP:0000135 Hypogonadism 3
HP:0000062 Ambiguous genitalia 2
HP:0000028 Cryptorchidism 1
HP:0000072 Hydroureter 1
HP:0000093 Proteinuria 1
HP:0000280 Coarse facial features 1
HP:0000501 Glaucoma 1
HP:0000518 Cataract 1
HP:0000819 Diabetes mellitus 1
HP:0001250 Seizures 1
HP:0001263 Global developmental delay 1
HP:0001643 Patent ductus arteriosus 1
HP:0001907 Thromboembolism 1
HP:0002381 Aphasia 1
HP:0002463 Language impairment 1
HP:0002533 Abnormal posturing 1
HP:0002974 Radioulnar synostosis 1
HP:0005775 Multiple skeletal anomalies 1
HP:0009800 Maternal diabetes 1
HP:0011003 High myopia 1
HP:0100775 Dural ectasia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID