Distal monosomy 10p

Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.



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Narrow down the case reports



Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(70.8%)		 17163546
 Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome.
Battaglia A, Novelli A, Ceccarini C, Bernardini L, Carey JC.
Am J Med Genet A. 2007;143A(2):184-8.
Epicanthus Short philtrum Micrognathia
Adult Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 12 Craniofacial Abnormalities Females Foot Homo sapiens Intellectual Disability Monosomy Syndrome Trisomy
2
(4.0%)		 21242646
 GATA3 abnormalities in six patients with HDR syndrome.
Fukami M, Muroya K, Miyake T, Iso M, Kato F, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T.
Endocr J. 2011;58(2):117-21.
Hypoparathyroidism
CDKN2B GATA3
c|INS|404_405|C c|INS|708_709|C c|INS|737_738|G c|SUB|G|824|T c|SUB|G|IVS5+1|C c|SUB|T|700|C p|FS|G|246||303 p|FS|P|135||303 p|FS|S|237||303 p|SUB|F|234|L p|SUB|W|275|L rs1554794844
Adult Child, Preschool Chromosomes, Human, Pair 10 DiGeorge Syndrome Females GATA3 Transcription Factor Gene Deletion Heterozygote Homo sapiens Hypoparathyroidism Male Missense Mutation Mutation Nephrosis
        

Phenotype(s) retrieved from Orphanet

    Total: 31

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000364 Hearing abnormality Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001800 Hypoplastic toenails Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0000147 Polycystic ovaries Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0001231 Abnormal fingernail morphology Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0002023 Anal atresia Occasional (29-5%)
HP:0004397 Ectopic anus Occasional (29-5%)
HP:0008736 Hypoplasia of penis Occasional (29-5%)
HP:0009811 Abnormality of the elbow Occasional (29-5%)
HP:0100335 Non-midline cleft lip Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID