Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos.
Isochromosomes ; Hypertelorism

Turner syndrome (TS) with an isochromosome mosaic karyotype 45,X/46,X,i(X) (q10) is an unusual variant, with only an 8-9% prevalence among women with TS based on international studies and 15% of all TS in the Philippines. Clinical features are atypical and any case should be investigated to detect potential complications.A 20-year-old female came in due to amenorrhea and alopecia. Physical examination revealed short stature, cubitus valgus and Tanner Stage 1 pubic hair and breast development. Transrectal ultrasound revealed absent ovaries and infantile uterus. Hormonal evaluation revealed hypergonadotropic hypogonadism. Bone aging was that of a 13-year-old for females with non-fusion of epiphyseal plates. Cytogenetic study revealed 45,X [37]/46, X, i (X) (q10)[13]. This is consistent with a variant Isochromosome Mosaic Turner Syndrome (IMTS). She was screened for medical complications. Audiogram and two-dimensional echocardiography were unremarkable. She has dyslipidemia and was given a statin. She has subclinical hypothyroidism with positive test for anti-thyroglobulin antibody. Her intelligence quotient (IQ) was below average. She received conjugated estrogen and progesterone that patterned the hormonal changes in a normal menstrual cycle. On the third week of hormonal therapy, she developed breast mound and on the fourth week, she had her first menstrual period. Her alopecia spontaneously resolved. The case is a variant of Turner Syndrome requiring supportive, medical and psychological care
Turner Syndrome ; Isochromosomes ; Alopecia

No abstract available.
Bone Marrow* ; Isochromosomes* ; Lymphoma, B-Cell*

Supernumerary isochromosome resulting in autosomal tetrasomy are rare and have been described only for 12P, 18P, and 9P. Tetrasomy 9P, initially described by Ghymer et al, is a rare chromosomal aberration that has been described in 20 patients. Affected subjects show both cytogenetic and ohenotypic variability. Some patients have the abnormal cell line in all cells, but many display tissue limited mosaicism. The phenotype varies in severity from prenatal death to mild developmental delay and minor anomalies. We reported a infant with mild manifestations of tetrasomy 9p with brief review of related literatures.
Cell Line ; Chromosome Aberrations ; Cytogenetics ; Humans ; Infant ; Isochromosomes ; Mosaicism ; Phenotype ; Tetrasomy*

Since Pallister first described 12p tetrasomy syndrome in 1977, approximately 50 patients have been described. Chromosomal study of lymphocyte is normal in most cases, but fibroblasts usually reveal 12p tetrasomy in chromosomal study. We report on a 17-month-old male infant with Pallister-Killian syndrome. He was admitted in our hospital for investigation of developmental delay and myoclonic seizure. He was diagnosed with Killian syndrome by clinical feature and 12p isochromosome in chromosomal study. He had multiple anomalies such as frontal bossing, temporofrontal balding, hypertelorism, simian crease, and accessory nipple. He died at home at 25 months old.
Child, Preschool ; Fibroblasts ; Humans ; Hypertelorism ; Infant ; Isochromosomes ; Lymphocytes ; Male ; Nipples ; Seizures ; Tetrasomy

Autoimmune thyroiditis in Turner syndrome is more prevalent in women with the X isochromosome karyotype, compared with other karyotypes. The cause of obesity in Turner syndrome is not to be sure, it may be related to metabolic syndrome inducing insulin resistance, hyperlipidemia, and cardiovascular diseases. Also the influence of each karyotypes on degree of obesity is unclear in Turner syndrome. We experienced a case of X isochromosome Turner syndrome with metabolic syndrome and autoimmune thyroiditis and report it with reviews of literatures.
Cardiovascular Diseases ; Female ; Humans ; Hyperlipidemias ; Insulin Resistance ; Isochromosomes* ; Karyotype ; Obesity ; Thyroiditis, Autoimmune* ; Turner Syndrome*

Autoimmune thyroiditis in Turner syndrome is more prevalent in women with the X isochromosome karyotype, compared with other karyotypes. The cause of obesity in Turner syndrome is not to be sure, it may be related to metabolic syndrome inducing insulin resistance, hyperlipidemia, and cardiovascular diseases. Also the influence of each karyotypes on degree of obesity is unclear in Turner syndrome. We experienced a case of X isochromosome Turner syndrome with metabolic syndrome and autoimmune thyroiditis and report it with reviews of literatures.
Cardiovascular Diseases ; Female ; Humans ; Hyperlipidemias ; Insulin Resistance ; Isochromosomes* ; Karyotype ; Obesity ; Thyroiditis, Autoimmune* ; Turner Syndrome*

Kabuki make-up syndrome(KMS) is characterized by mental and developmental retardation and peculiar facial features including long palpebral fissures with eversion of the lateral portion of lower eyelid and arching of eyebrows, resembling the actors in Japanese Kabuki. In addition, dermatoglyphic and skeletal abnormalities are commonly associated. Although most karyotypes of KMS are shown to be normal, there have been some reports suggesting the involvement of X chrornosome in KMS. We report here two children showing the main features of KMS, one of whom has a mosaic Turner karyotype of 45,X/46,Xi(Xq). We reviewed KMS and its association with abnormalities of X chromosome.
Asian Continental Ancestry Group ; Child ; Dermatoglyphics ; Eyebrows ; Eyelids ; Humans ; Isochromosomes* ; Karyotype ; Turner Syndrome ; X Chromosome

OBJECTIVE: An isochromosome for the long arm of 17, i(17q), is the most frequent chromosomal abnormality in medulloblastoma, occurring in 30-60% of cases by karyotype analysis and this abnormality has been reported to be present in cases with a shorter survival time by some authors. Moleculogenetic analysis for i(17q) was performed to identify its influence on the long term survival. PATIENTS AND METHODS:The authors reviewed 17 children and divided them into two groups(favorable and poor outcomes) to elucidate the influence of the i(17q) on the long term survival. Eight children with favorable outcome are in disease-free status during the follow-up period (range: 52-87 months, median: 66 months). The other nine children with poor outcome died of disease progression or recurrence and their median survival time was 13 months (range: 1-28 months). Fluorescent in situ hybridization(FISH) was used for the detection of i(17q) in 17 children. RESULTS: The i(17q) was detected in nine of 17 children. There was no difference in the positive rates of i(17q) between two groups. CONCLUSION: The i(17q) was detected by FISH in 53% of medulloblastoma patients. Presence of the i(17q) was not a prognostic factor on the long term survival.
Arm ; Child ; Chromosome Aberrations ; Disease Progression ; Follow-Up Studies ; Humans ; Isochromosomes* ; Karyotype ; Medulloblastoma* ; Prognosis ; Recurrence

Chromosome Banding ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 12 ; genetics ; Humans ; Infant ; Isochromosomes ; genetics ; Male ; Meiosis