Distal monosomy 7q36

Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(50.0%)		 7235841
 [Monosomy 7qter (author's transl)].
Lambert JC, Mariani R, Donzeau M, Ferrari M, Boutte P, Ayraud N.
Arch Fr Pediatr. 1981;38(3):177-80.
Brachycephaly Overlapping toe Prominent forehead
Chromosome Aberrations Chromosome Deletion Chromosomes, Human, 6-12 and X Homo sapiens Infant, Newborn Male
2
(40.2%)		 317790
 [Monosomy 7qter (author's transl)].
Turleau C, de Grouchy J, Perignon F, Lenoir G.
Ann Genet. 1979;22(4):242-4.
Microcephaly Bulbous nose
F12
Chromosome Aberrations Chromosome Banding Chromosome Deletion Chromosomes, Human, 16-18 Dermatoglyphics Face Females Growth Disorders Homo sapiens Infant, Newborn Microcephaly Skin Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000293 Full cheeks Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000414 Bulbous nose Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0002648 Abnormality of calvarial morphology Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006889 Intellectual disability, borderline Very frequent (99-80%)
HP:0007598 Bilateral single transverse palmar creases Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0010978 Abnormality of immune system physiology Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0100729 Large face Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001360 Holoprosencephaly Frequent (79-30%)
HP:0100335 Non-midline cleft lip Frequent (79-30%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0006610 Wide intermamillary distance Occasional (29-5%)
HP:0009773 Symphalangism affecting the phalanges of the hand Occasional (29-5%)
HP:0100790 Hernia 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