Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q9UIJ5 (Rec)
 58,342 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The ilioinguinal nerve was dissected in 196 adult human cadavers. A normal pattern of distribution, consistent with modern textual descriptions, was defined in 60% of inguinal regions. In 35% of the inguinal regions a previously undescribed aberrant course for the cutaneous component of the ilioinguinal nerve was observed in which it is incorporated within the genitofemoral nerve, entered the inguinal canal at the deep inguinal ring, coursed within the cremasteric layer and emerged into the subcutaneous tissue at the superficial inguinal ring on the dorsal side of the spermatic cord or the round ligament of the uterus. The cutaneous component of the ilioinguinal nerve is most frequently found on the ventral surface of the spermatic cord or round ligament during inguinal hernia operations thus an unrecognized aberrant course of this nerve within the spermatic cord is particularly susceptible to accidental trauma.
Anat Rec 1977 Oct
PMID:The aberrant course of the cutaneous component of the ilioinguinal nerve. 91 Oct 46

A male infant with karyotype 46,XY,rec(5),dup q,inv(5)(p15.1 q35.1)pat is presented. The proband showed growth and developmental retardation, complex cardiovascular abnormalities, inguinal hernia and microcephaly in addition to facial appearance and cat-like cry characteristic of the cri-du-chat syndrome. Growth and developmental retardation, and microcephaly noted in this patient were markedly more serious than those observed in patients either with partial monosomy 5p or with partial trisomy 5q alone.
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PMID:Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1). 267 52

An abnormality of chromosome 16 in an eight year-old male was associated with a multiple congenital anomalies syndrome characterized by myopathy, cataracts, blepharophimosis, microcephaly, failure to grow, profound mental retardation, moderate sensorineural hearing loss, grand mal seizures, bilateral inguinal hernia, and thoracolumbar kyphoscoliosis. Magnetic resonance imaging of the head demonstrated absence of the corpus callosum and extensive loss of brain parenchyma in the occipital regions. Chromosome analysis from peripheral blood of the patient showed a recombinant chromosome 16 [46, XY, rec (16), dup (p13.1----p13.3) del (q22----q24)]. The mother had a pericentric inversion of chromosome 16 [46, XX, inv(16) (p13.1;q22)]. Independent recombinant DNA studies have shown that the breakpoints of these chromosomal rearrangements flank the alpha-globin gene cluster locus.
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PMID:Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormality. 381 61