A 59-year-old female presented with pancytopenia and splenomegaly. Bone marrow was normocellular with 30.4% abnormal large lymphoid cells that were positive for CD5, CD19, CD20, HLA-DR and λ chain. [jlc.jst.go.jp]

Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Last updated: 7/30/2018 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

He gained weight initially but subsequently diarrhoea and weight loss recurred and were not exacerbated by cessation of the supplement. Testing at various ages showed mild intellectual disability with verbal superior to performance skills. [jmg.bmj.com]

[…] genes are involved, signs and symptoms that may be present in a person with ring chromosome 18 include ear and hearing abnormalities, abnormally-developed feet or hands, genital abnormalities in males, an increased risk to develop juvenile rheumatoid arthritis [rarediseases.info.nih.gov]

Other manifestations include hypotonia, foot deformation, proximally placed thumbs, arthritis/stenotic ear canals, long tapering digits, abnormal male genita-lia, flat midface, prominent antihelix antitragus and carp - shaped mouth ( 4 ) as well as immunological [ncbi.nlm.nih.gov]

The clinical manifestations of ring chromo-some 18 patients are include microcephaly, mild to severe mental retardation, short stature, obesity, mi-cropenis, cryptorchidism, hypertelorism, epicanthic fold, microgenathia and small hands ( 7 ). [ncbi.nlm.nih.gov]

She had normal stature, head circumference, and deep tendon reflexes ( Figure 1 ). Hearing screen, electrocardiography, echocardiography, abdominal ultrasound and ophthalmologic examination were normal. [omicsonline.org]

[…] cells, and in two out of 27 cells the RC appeared to be doubled; and parents' karyotypes unavailable (12) 5 years/F––Growth delay–PMDDWilms tumor46,XX,r(11)(p15.5q25)Present case report5 years/FPrecocious puberty, severe hirsutism amenorrhea, androgenic alopecia [edmcasereports.com]

Familial short arm deficiency of chromosome 18 concomitant with arrhinencephaly and alopecia congenita. Amer. J. hum. Genet. 17, 410–419 (1965). Google Scholar Vaillaud, J. [link.springer.com]

face Circular face Round facial appearance Round facial shape [ more ] 0000311 Telecanthus Corners of eye widely separated 0000506 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased [rarediseases.info.nih.gov]

(1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome [edmcasereports.com]

The patient was referred to our Unit because of persistent thrombocytopenia and syndactyly, pes planus and a bilateral Babinski sign. The remainder of physical examination revealed curly hair, thin upper lip, broad nasal bridge and tip. [omicsonline.org]

(1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome [edmcasereports.com]