Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which is characterized by cleft palate and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor p63. Here, we report the generation of a knock-in mouse model for AEC syndrome (p63(+/L514F) ) that recapitulates the ...

Dengue virus (DV) reacts with myeloid DAP12-associating lectin-1 (MDL-1) on immature polymorphonuclear leukocytes. Interaction of DV with MDL-1+ cells triggers systemic inflammatory response syndrome (SIRS) and dengue shock syndrome (DSS), with subsequent multi-organ failure. In this issue of the JCI, Cheung et al. find that sterile acute liver injury in ...

PURPOSE: Case report of metastatic lung cancer to the iris mimicking Cogan-Reese syndrome. METHODS: A 61-year-old female with a history of non-small cell lung cancer presented with unilateral elevated intraocular pressure (IOP) and multiple hyperpigmented iris nodules associated with an anterior iris membrane. The patient's IOP could not be controlled ...

Chondrolipoma is a rare condition; especially in the oral cavity. The authors described a giant chondrolipoma of the tongue, associated with mandibular and lower lip overgrowth, in a 14-year-old boy. After tumour excision, histopathological examination showed mature cartilage within lobules of mature adipocytes. This is the first case of giant ...

Sickle cell trait, as opposed to the disease, is a rare condition with fewer medical complications. We present a case of a 24 year old Army recruit, who required multiple fasciotomies for limb compartment syndrome, associated with sickle cell trait. We discuss the management, complications and screening programmes of the ...

This article highlights the exertional-sickling collapse syndrome in athletes with sickle cell trait (SCT). It covers all aspects of this syndrome, including pathophysiology, new research on microcirculatory changes, clinical features, differential diagnosis, prevention, and treatment. Also covered in this article are other clinical concerns for athletes with SCT, including lumbar ...

Dilated cardiomyopathy and ventricular noncompaction have been reported in association with deletion 1p36 syndrome. Previous descriptions include echocardiographic and/or gross pathologic descriptions. There are no previous reports of microscopic findings. We report a case with descriptions of echocardiographic, gross pathologic, and microscopic findings.

Turner syndrome is the most common chromosomal abnormality in female subjects, affecting 1 in 2000 live births. The condition is associated with a generalized vasculopathy as well as congenital cardiac and other defects. We report aneurysmal dilation of medium caliber arteries involving the celiac axis and coronary vessels in two ...

Immune reconstitution inflammatory syndromes (IRIS) in patients with acquired immune deficiency syndrome (AIDS) are characterised by atypical manifestations of opportunistic pathogens. These occur in patients experiencing improvement in CD4 cell counts following receipt of highly active anti-retroviral therapy (HAART). Although well established as a syndrome, IRIS still presents challenges in ...

Vasculitis affecting large elastic arteries, including the aorta and major proximal branches, encompasses various diseases including Takayasu arteritis, giant cell (or temporal) arteritis, and tertiary syphilis, but also may occur as a rare complication of Behçet's disease, rheumatoid arthritis, sarcoidosis, Cogan syndrome, Kawasaki disease, ankylosing spondylitis, systemic lupus erythematosus and ...

A case of therapy-related myelodysplastic syndrome (t-MDS) with unusual cytogenetics is presented. While therapy related myeloid neoplasms account for 10-20% of all myeloid neoplasms, 90% of therapy related myelodysplastic syndromes (MDS) present with a del(7q) or a del(5q) and fewer than 1% present with a del(20q). In this case, the ...

BACKGROUND: The typical cardiac manifestations of Marfan syndrome are aortic regurgitation with progressive dilatation of the aortic root, which may cause dissection and rupture of the ascending aorta, mitral valve prolapse and mitral valve regurgitation. In this study, we aimed to show echocardiographic findings in 11 patients with Marfan syndrome. ...

Vaginal dilation is the first choice of treatment for women with a short vagina due to Rokitansky syndrome. Although the neovagina lacks pelvic support, prolapse of the neovagina is a surprisingly rare complication of treatment. Laparoscopic sacrocolpopexy is recommended in the treatment of posthysterectomy vault prolapse in younger women but ...

Trisomy 21 (TRS21), also referred to as Down syndrome, occurs once in every 800-1,000 live births. It is the consequence of an extra copy of HSA21 that causes an imbalanced gene dose effect. TRS21 is the first known genetic cause of cognitive disability. The syndrome is complex, and includes various ...

The clinical, haematological and biochemical findings, treatment and outcome of 63 cows with haemorrhagic bowel syndrome are described. The general condition and demeanor were moderately to severely abnormal in all the cows. Signs of colic occurred in 27 cows, decreased rectal temperature in 46 and tachycardia in 44. With the ...

Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18. ...

We report a 15-day-old girl with partial trisomy 4q syndrome who presented with neonatal cholestasis. She had dysmorphic facial features and preaxial polysyndactyly of the right hand. The other findings were generalized hypertrichosis, pes equinovarus, oedema on feet and mild hepatomegaly. No specific reason for the cholestasis with elevated liver ...

Binder phenotype (BP), or maxillonasal dysostosis, consists of 6 characteristics: arhinoid face, abnormal position of nasal bones, intermaxillary hypoplasia/malocclusion, reduced/absent anterior nasal spine, atrophy of nasal mucosa, and absence of frontal sinus. The purposes of this study were (1) to review the characteristic facial findings, other malformations, and diagnoses in ...

OBJECTIVE: To compare the indications for invasive prenatal testing resulting in the detection of translocation Down syndrome and complete trisomy 21. STUDY DESIGN: This case control study was based on a large amniocentesis and chorionic villi samples database (n = 534,795). All specimens with translocation Down syndrome (n = 203) ...

Increased fetal nuchal translucency thickness is associated with trisomy 13, trisomy 18, trisomy 21, Turner syndrome, other sex chromosome abnormalities, as well as many fetal anomalies and genetic syndromes. This article provides a comprehensive review of the cardinal proposed pathophysiology including altered composition of the extracellular matrix, abnormalities of the ...

Fetuses with Turner's syndrome or trisomies 21, 18 and 13 show excess of skin, which can be visualized by ultrasonography as increased nuchal translucency at 11-13(+6) weeks' gestation. The objective of this study was to gain insight in the development and distribution of blood vessels, lymphatic capillaries of the cutis ...

A first-trimester screen consists of a nuchal translucency (NT) ultrasound measurement as well as maternal serum testing for pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotropin (hCG). An increased nuchal translucency (NT) thickness at 11 to 14 weeks gestational age is a common finding for Down syndrome, Trisomy 18 and ...

Autopsy reports accumulated since 1991 contained 30 cases in which routine radiological investigation had demonstrated radio-dense stippling of the epiphyses. The case histories, pregnancy progress, clinical manifestations, cytogenetic investigations, and autopsy findings have been tabulated and analysed for the purpose of diagnostic discrimination. Firm diagnoses were obtained in eight instances: ...

INTRODUCTION: Trisomy 21 or Down syndrome is the most common type of autosomal chromosome abnormality, with an incidence of one out of 700 live births. Down syndrome is associated with psychomotor delay, characteristic facial features, and sometimes, cardiac, digestive and ocular malformations. The aim of this study was to estimate ...

OBJECTIVE: To estimate the maternal age-specific live birth prevalence (in the absence of prenatal diagnosis and selective termination) of trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) and compare it with that of trisomy 21 (Down syndrome). METHODS: Records of prenatal and postnatal diagnoses from seven UK regional congenital ...

We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed by microarray comparative genomic hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and corpus callosum agenesis diagnosed by MRI which has not been reported in the literature. This novel phenotype differs from ...

Trisomy 18 (Edwards syndrome - ES) is the second most common trisomy. It occurs in 1/3 000 to 1/8 000 births. ES is a cause of numerous developmental disorders and malformations. The median life span of children with ES is about 2 weeks and only 5%-10% will survive their first ...

A newborn male presented with intestinal malrotation, facial anomalies, hypertrichosis, hypertrophic, hyperpigmented nipples and enlarged genitals with a hyperpigmented scrotum. In addition, the patient displayed a marked lipodystrophy of trunk and limbs. His karyotype demonstrated a small supernumerary NOR-positive marker chromosome that was subsequently identified as del(22)(q12->qter). This extra structurally ...

Relatively few cases of trisomy 8 mosaicism syndrome (T8mS) are documented in the medical literature. It is a rare genetic condition characterized by extreme phenotypic variability--ranging from severe congenital malformations to minute dysmorphic changes. The authors describe a case of T8mS in a man aged 33 years who presented with ...

Down syndrome (DS) is a chromosomal abnormality (trisomy 21) associated with a complex phenotype. Oxidative stress is known to play a major role in this pathology both due to genetic and epigenetic factors, suggesting that oxidative imbalance contributes to the clinical manifestation of DS. In particular, the implications of oxidative ...

Down syndrome is characterized by multiple phenotypic manifestations associated with trisomy of chromosome 21. The transient myeloproliferative disorder and acute megakaryocytic leukemia associated with Down syndrome are uniquely associated with mutations in the transcription factor GATA1; however, the identity of trisomic genes on chromosome 21 that predispose to these hematologic ...

Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and ...

OBJECTIVE: To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12-S (ADAM12s) as an additional marker for the combined test in the Dutch first-trimester national Down syndrome (DS) screening program. METHODS: Serum samples were collected between 2004 and 2007 as part of the national program. A total of ...

Multiple appearance of pilomatricoma is a rare phenomenon that has been associated with some diseases like Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. We present a case of association of multiple pilomatricoma and trisomy 9, which represents the third published in literature. As a result of the small prevalence of ...

The characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases. There is an established literature, which describes features of Behçet syndrome occurring in phenotypically normal individuals with myelodysplastic syndromes and trisomy 8 in their bone marrow. In this ...

4p Monosomy and 12p trisomy have been discussed and redefined along with recently reviewed chromosomal syndromes. 12p Trisomy syndrome is characterized by normal or increased birth weight, developmental delay with early hypotonia, psychomotor delay, and typical facial appearance. Most likely, the observed phenotypic variability depends on the type and extent ...

A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome. Echocardiography showed malalignment VSD, supravalvular pulmonary stenosis and overriding ...

Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal ...

Two groups of tau, 3R- and 4R-tau, are generated by alternative splicing of tau exon 10. Normal adult human brain expresses equal levels of them. Disruption of the physiological balance is a common feature of several tauopathies. Very early in their life, individuals with Down syndrome (DS) develop Alzheimer-type tau ...

Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias ...

BACKGROUND: Whilst maternal age is an established risk factor for Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18) and Down syndrome (trisomy 21), the aetiology and contribution of genetic and environmental factors remains unclear. We analysed for space-time clustering using high quality fully population-based data from a geographically defined region. ...

Increased nuchal translucency (NT), morphologically known as nuchal edema, is an ultrasound marker for aneuploidy. Turner syndrome presents with massive NT, called cystic hygroma. Conflicting data exist as to whether cystic hygroma and increased NT are different entities. Both are associated with jugular lymphatic distension. The authors investigated jugular lymphatics ...

OBJECTIVE: To describe a case of young-onset Alzheimer disease (AD) due to mosaicism for trisomy 21. DESIGN: Case report of a single patient. SETTING: Tertiary referral dementia clinic. PATIENT: A 55-year-old man with a mild degree of developmental delay but no previous diagnosis of Down syndrome and only minimal physical ...

Myelodysplastic syndrome (MDS) in children is often associated with chromosomal anomalies and trisomy 8 is a characteristic karyotypic feature in up to 20% of the cases. Behçet disease is a rare multisystem inflammatory disorder characterized by recurrent mouth and genital ulcers. MDS with trisomy 8 has been observed in adult ...

Monosomy 21 is a rare acquired karyotypic abnormality associated with myeloid disorders. Occurrence of loss of one chromosome 21 in the background of trisomy 21 in Down syndrome, resulting in the pseudo-normalization of trisomy 21, is a novel finding. The case is described of a patient with Down syndrome who ...

PURPOSE: Dental malformations due to chromosomal trisomies are rarely described and need an intensive cooperation between pediatricians, orthodonticians and human geneticists to enable the collection of data and to extend the investigations on specific parameters of the teeth. RESULTS: Here we present tooth studies of two children with trisomies 13 ...

The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p isochromosome [i(12p)]. We report a rare case of Pallister-Killian syndrome with 12p mosaicism, tetrasomy/trisomy/disomy in fibroblasts and trisomy/disomy in lymphocytes. Marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridisation ...

Phenotypically healthy carriers of the balanced 11;22 translocation, the most frequent non-Robertsonian constitutional translocation known in human beings, are at risk of having a progeny with supernumerary derivative (22)t(11;22) syndrome [der(22) syndrome]. We present the cases of 2 male patients with supernumerary der(22) syndrome [47,XY,+der(22)t(11;22)(q23;q11.2)mat], yielding partial trisomy for 22pter-q11 ...

Trisomy 18 syndrome is the second most common multiple malformation syndrome. The incidence is about 0.3 per 100 newborn babies. More than 130 different abnormalities have been noted in the literature on patients with the trisomy 18 syndrome. Trisomy 18 includes a broad spectrum of anomalies and malformations, among which ...

The association of Behçet's disease with myelodysplastic syndromes has been established in the hematologic, gastrointestinal, and medical genetics literature; trisomy 8 is a feature present in 70% of these reports. Because trisomy 8 is ordinarily present in only 14% of patients with myelodysplastic syndrome, this is a significant overrepresentation. We ...