Individual #00057925

ID_report -
Reference PubMed: Colombo 2012
Remarks his mother had a miscarriage and an elder affected sister (not tested) died during infancy
Gender M
Consanguinity yes
Country Turkey
Population Caucasian
Age/Death >18y (later than 18 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PN
Owner name Ludovica Volpi


Phenotypes

poikiloderma, with neutropenia (PN) (PN)   Add phenotype for this disease

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Owner     
0000044575 poikiloderma, neutropenia, palmoplantar and ear helixes hyperkeratosis, dry scalp hair, toe nails subungueal hyperkeratosis, delayed dental eruption, caries tendency, saddle short nose, flat broad face, caput quadratum, retrognathia, myelodysplasia, splenomegalia, recurrent pulmonary infections and meningitis, low stature (<3rd centile), hypogonadism. An affected elder sister (not tested) died during infancy - - Familial, autosomal recessive - 17y 00y05m - - Ludovica Volpi



Screenings


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Owner     
0000057888 DNA;RNA PCR;RT-PCR;SEQ - - USB1 2 Ludovica Volpi



Variants

2 entries on 1 page. Showing entries 1 - 2.
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AscendingDNA change (genomic) (hg19)     

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16 Paternal (confirmed) +/+ g.58051265delA g.58017361delA - - USB1_000007 - Colombo ASHG 2010 meeting PubMed: Colombo 2012, PubMed: Walne 2010 - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 5 NM_024598.3:c.531delA - - r.531delA p.His179Metfs*86 - - - - - - - - - - - - - - - - - - -
16 Maternal (confirmed) +/+ g.58051265delA g.58017361delA - - USB1_000007 - PubMed: Colombo et al. 2012 - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 5 NM_024598.3:c.531delA - - r.531delA p.His179Metfs*86 - - - - - - - - - - - - - - - - - - -
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