PARTIAL DELETION OF THE LONG ARM OF CHROMOSOME E-18

PEDIATRICS ◽  
1970 ◽  
Vol 46 (5) ◽  
pp. 721-729
Author(s):  
John P. Curran ◽  
Farouk L. Al-Salihi ◽  
P. W. Allderdice
Keyword(s):  
Mental Retardation ◽  
Growth Failure ◽  
External Genitalia ◽  
Male Infant ◽  
Chromosome Deletion ◽  
Partial Deletion ◽  
Developmental Retardation ◽  
The Subject ◽  
Ear Canals

A male infant with growth failure and multiple somatic abnormalities is described. Karyotype showed deletion of material from the long arm of an autosome identified autoradiographically as a number 18. Abnormalities commonly associated with this chromosome deletion have been mental retardation, growth failure, microcephaly, hypertrophic ear parts, mid-face retraction, increased digital whorls, developmental retardation, ocular anomalies, fusiform fingers, carp mouth, hypoplastic ear canals, and genital abnormalities occurring in males. The subject of this report presented with extreme growth failure and developmental retardation. Mid-face dysplasia was mild and microcephaly was absent. External genitalia were normal though all previously described males had cryptorchidism or penis abnormality. Findings not previously reported are ankylosis in extension of both knees, palatal pigmentation, and an extra thoracic vertebrum. Phenotypic analyses of patients with an 18q- or 18r chromosome suggest that genic loci influencing the development of ear canals and the incidence of digital whorls are located near the ends of the long arms.

Endocrine and immunogenetic evaluation of an XX male infant with perineoscrotal hypospadias

1985 ◽  
Vol 108 (3) ◽  
pp. 421-427 ◽  
Author(s):  
S. Kofman-Alfaro ◽  
E. Valdés ◽  
J. Terá ◽  
S. S. Wachtel ◽  
B. Chávez ◽  
...  
Keyword(s):  
Specific Binding ◽  
Chromosome Complement ◽  
External Genitalia ◽  
Male Infant ◽  
Serum Testosterone ◽  
Normal Activity ◽  
Significant Rise ◽  
Cultured Fibroblasts ◽  
Genital Ambiguity ◽  
Xx Male

Abstract. To clarify the origin of the genital ambiguity occasionally associated with the XX male syndrome, a series of endocrinological studies were undertaken in an affected 6 months old infant with perineoscrotal hypospadias. The patient fulfilled all the diagnostic criteria of the syndrome: the testes were descended bilaterally, the Mullerian derivatives were absent, the 46,XX chromosome complement was ascertained in different cell lines, and male levels of H-Y antigen were detected in cultured skin fibroblasts. Circulating gonadotrophin levels and pituitary LRH responsiveness were within normal limits for the age group. Serum testosterone (T) levels were normal, and gonadal stimulation with hCG caused a significant rise on serum T. Incubations of [3H]T with fibroblasts from genital skin revealed normal activity of steroid 5α-reductase. Moreover, normal concentrations of thermostable cytosol androgen receptors were revealed in cultured fibroblasts. Altogether the results indicated that ambiguity of the external genitalia in this patient was the result of neither abnormal T biosynthesis, peripheral A-ring T reduction, nor androgen intracellular specific binding, and suggested that the nature of the imcomplete virilization could be a non-endocrine independent event associated to this disorder. The data are also consistent with the notion that testicular impairment observed in adult XX males develops later in life.

Otoscopy and Photography

1979 ◽  
Vol 88 (6) ◽  
pp. 771-773 ◽  
Author(s):  
Benjamin Chen ◽  
Terry L. Fry ◽  
Newton D. Fischer
Keyword(s):  
Light Source ◽  
Clinical Application ◽  
Middle Ear ◽  
Optical System ◽  
Strobe Light ◽  
System A ◽  
The Subject ◽  
Ear Canals ◽  
Light Color ◽  
Otoscopic Examination

A new hand-held otoscope photographic system, convenient and suitable for clinical application, is introduced. This instrument allows clear otoscopic examination in stenotic or tortuous ear canals, and photographs the subject in one procedure. The instrument consists of a rodlens optical system, a fiberoptic light source, a camera, and exchangeable speculum and a strobe light. Color photographs of tympanic membranes and middle ear pathology are presented.

HEAD CIRCUMFERENCE, MENTAL RETARDATION, AND GROWTH FAILURE

PEDIATRICS ◽  
1965 ◽  
Vol 36 (1) ◽  
pp. 62-66
Author(s):  
Edward J. O'Connell ◽  
Robert H. Feldt ◽  
Gunnar B. Stickler
Keyword(s):  
Mental Retardation ◽  
Head Circumference ◽  
Growth Failure ◽  
Clinical Impression ◽  
Severe Mental Retardation ◽  
Small Head ◽  
The Mean ◽  
Standard Deviations ◽  
Mental Subnormality ◽  
Age And Sex

The purpose of this study was to re-affirm our clinical impression that non-institutionalized children whose head circumference was below minus 2 standard deviations were mentally subnormal and frequently had growth failure. A group of 134 children with a head circumference below minus 2 standard deviations from the mean were studied, and all but one were mentally subnormal. The most severe mental retardation was noted in the group of children with a head circumference of minus 4 standard deviations or below. We found, as have others, that children with mental retardation have height and weights below the expected norm and that children with a head circumference below minus 2 standard deviations have even lower mean heights and weights. The head circumference of 31 children with growth failure and normal intelligence was normal for age and sex, therefore disproving the concept that the abnormally small child has a proportionally small head. In the child with growth failure, should the head be proportionally small (below minus 2 standard deviations), mental subnormality should be suspected. We feel that the head circumference measurement has taken on new clinical significance in that our data support its use in suspecting the association of mental subnormality in children with growth failure and a head circumference of below minus 2 standard deviations from the mean for age and sex.

scholarly journals ANALYSIS OF SOCIAL INTERACTION OF MENTALLY RETARDED CHILDREN

2018 ◽  
Vol 2 (2) ◽  
pp. 17-21
Author(s):  
Yudhie Suchyadi ◽  
Yulia Ambarsari ◽  
Elly Sukmanasa
Keyword(s):  
Mental Retardation ◽  
Social Interaction ◽  
Descriptive Analysis ◽  
Research Result ◽  
Mentally Retarded ◽  
Research Approach ◽  
Social Contacts ◽  
The Subject ◽  
Mentally Retarded Children ◽  
The Way

Differences in the characteritics of children with special needs will require the ability of teachers to combine various abilities and talents of each child, such as mentally retarded children who need communication like children in general. His developmental delays are often excluded from his playing enviranment, thus the need for good social interaction with mentally retarded children. Based on these problems, a study was conducted to describe the findings of social interaction in mentally retarded children in extraordinary school Mentari Kita. The research is a descriptive analysis with qualitative research approach. Technique of data analysis was performed with data reduction stage, the presentation of data, and verification (conclusions). Researchers used the test of credibility, transferabilitas, dependabilitas, and konfirmabilitas to obtain the validity of the data. The result showed that the way social interaction with mental retardation children how do social contacts and communication as being able to respond when invited to communicate but it should be repeated over and over,the subject has a weakness in the concentration of so when invited to talk hard staring at your opponents interlocutor. When did the subject communication using language that sounds stilted. Social contact subject well againts his peers is characterized by sensitivity to her friends when in distress, want to help his friend like get a pencil, and divide the food per day taken by subject. Based on the above research result it can be concluded that the way the social interactions of the child with mental retardation how do social contacts and communication in accordance with the terms of the occurrence of social interaction. Keywords: Social Interaction, Mental Retardation

Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion

1987 ◽  
Vol 75 (3) ◽  
pp. 286-290 ◽  
Author(s):  
S. V. Hodgson ◽  
M. E. Robertson ◽  
C. N. Fear ◽  
J. Goodship ◽  
S. Malcolm ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Prenatal Diagnosis ◽  
X Chromosome ◽  
Chromosome Deletion

scholarly journals Penerimaan Ibu yang Memiliki Anak Retardasi Mental di SLB YPAC Padang

2014 ◽  
Vol 3 (2) ◽  
Author(s):  
Faraznasia Benny ◽  
Adnil Edwin Nurdin ◽  
Eva Chundrayetti
Keyword(s):  
Mental Retardation ◽  
Structured Interview ◽  
Qualitative Approach ◽  
Research Subjects ◽  
Minimal Self ◽  
Interview Techniques ◽  
Self Defense ◽  
Physical Form ◽  
The Subject

AbstrakPenerimaan merupakan sikap seseorang yang menerima orang lain apa adanya secara keseluruhan, tanpa disertai persyaratan ataupun penilaian. Apabila dalam keluarga terutama pada ibu ada penerimaan, maka dapat membantu dalam pengasuhan dan akan mendukung perkembangan anak. Namun tidak mudah bagi seorang ibu untuk dapat menerima begitu saja kondisi anaknya.Penelitian ini bertujuan untuk memperoleh gambaran penerimaan ibu terhadap anaknya yang mengalami gangguan retardasi mental, faktor-faktor yang menyebabkan penerimaan serta gambaran retardasi mental secara pendekatan kualitatif dalam bentuk eksplorasi. Subyek penelitian ini adalah tiga orang ibu yang memiliki anak yang mengalami gangguan retardasi mental. Dalam penelitian ini digunakan teknik wawancara semi terstruktur. Berdasarkan hasil penelitian secara umum, satu dari tiga orang subyek penelitian dapat dikatakan telah menerima anaknya dengan baik, hal ini terlihat dari sikap subyek yang telah memenuhi keseluruhan aspek penerimaan ibu terhadap anak yaitu kecemasan yang minimal terhadap kehadiran anak, pembelaan diri yang minimal atas keterbatasan anak, dan tidak adanya penolakan. Disamping itu kedua subyek tersebut juga memperlihatkan adanya kontrol terhadap perkembangan anak, memberikan tekanan atas kemampuan anak, komunikasi yang hangat, pengasuhan yang baik, adanya sikap menghargai dan penlaian yang positif terhadap anak, juga pengenalan atas kebutuhan anak dalam pengembangan kemandirian anak. Namun pada dasarnya seluruh subyek dapat memenuhi aspek yang terkait dengan pengasuhan, dan tidak adanya penolakan yang terlihat dari ibu. Gambaran retardasi mental yang dialami anak subyek dapat dikatakan terlihat jelas dari bentuk fisik. Kondisi keterbelakangan mental anak dari subyek A, B, dan C terlihat tidak terlalu parah. Faktor yang paling menonjol dalam penerimaan dari ketiga subyek adalah faktor agama, dimana seluruh subyek menyatakan dapat menerima kondisi anak setelah menyerahkan seluruhnya kepada Tuhan.Kata kunci: Penerimaan Ibu, Retardasi Mental, AnakAbstractThe acceptance is an attitude of someone who accepts other people as they are as they are whole, without any requirements or assessment. When a family, especially the mother has reception, then it can assist in education and support the development of children. But it is not easy for a mother to be able to take for granted of her child condition. The aim of this study was to obtain an acceptance overview of the mother whose children suffered mental retardation disorder, the factors led to the acceptance as well as an overview of mental retardation by a qualitative approach in the form of exploration. The subjects were three mothers whose children with mental retardation disorders. This study used semi-structured interview techniques. Based on the results of general research, two of the three research subjects can be said that they have accepted their children well, as seen from the attitude of the subject who has fulfilled all aspects of the mothers' acceptance to their children are the minimal anxiety to the presence of the children, a minimal self-defense about the limitations of the children, and the absence of rejection. Besides, these two subjects also showed that the control of the development of the children, pressure giving on the children’s ability, warm communication, good parenting, respection and a positive judgement against children, also a recognition of the children’s needs in the development of the children’s independence. But basically the whole subject can fulfill aspects associated with caregiving, and the absence of a rejection seen on the mother.The overview of mental retardation suffered by the subject children can be said is obvious from the physical form. Mental retardation of the childrens' condition subjects A, B, and C are not too severe. The most prominent factor in the acceptance of the three subjects is the religion factor, where the whole subjects state can accept the childrens' condition after the completely submission to the God.Keywords:Mother Acceptance, Mental Retardation, Children

scholarly journals Meningkatkan Life Skill pada Anak Down Syndrome dengan Teknik Modelling

2016 ◽  
Vol 5 (03) ◽  
Author(s):  
Amherstia Pasca Rina
Keyword(s):  
Down Syndrome ◽  
Mental Retardation ◽  
Subject Matter ◽  
Life Skills ◽  
Modelling Technique ◽  
Life Skill ◽  
Moderate Mental Retardation ◽  
Modeling Techniques ◽  
The Subject

The purpose of this research is to improve life skills in children with Down syndromeby using modeling techniques. Subjects in this study 1 children. Subject (S) is a boy aged 11years. Asesment results show that the subject has the characteristics of Down syndrome, has thecognitive abilities that are categorized as moderate mental retardation, difficulty coordinatingmovement of the eyes and hands, as well as the ability of life skills is low. The results showedthat the intervention modeling techniques can improve life skills in the subject. Behavioraltherapy with modeling techniques provide a change to the subject in a positive though notoptimal. Modeling techniques can not complete the whole subject matter related to the subjectemotional state and parenting parentsKeywords : Life Skill, Down Syndrome, Modelling Technique

scholarly journals Do partial AZFc deletions affect the sperm retrieval rate in non-mosaic Klinefelter patients undergoing microdissection testicular sperm extraction?

2020 ◽  
Author(s):  
I-Shen Huang ◽  
Richard J Fantus ◽  
Wei-Jen Chen ◽  
James Wren ◽  
Wei-Tang Kao ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Chromosome Deletion ◽  
Testicular Sperm ◽  
Partial Deletion ◽  
Sperm Retrieval ◽  
Predictive Values ◽  
Retrieval Rate ◽  
Significant Difference ◽  
Factor C ◽  
Sperm Recovery

Abstract Background The purpose of this study is to evaluate the prognostic factors for sperm retrieval and determine if Y chromosome deletion is associated with deleterious effects. Whether Y chromosome deletion determines the sperm retrieval rate in non-mosaic Klinefelter patients has not yet been addressed. Methods We retrospectively collected medical records of azoospermic patients from Sep 2009 to Dec 2018, and enrolled 66 non-mosaic 47, XXY patients who were receiving mTESE. The predictive values of patients age, serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, prolactin, estradiol and Y chromosome deletion were assessed for successful sperm recovery. Results Testicular sperm recovery was successful in 24 (36.4%) of 66 men. The mean age (36.0 vs. 36.6 years), and levels of FSH (30.0 vs 36.9 IU/L), LH (17.7 vs 21.9 IU/L), testosterone (2.4 vs. 2.1 ng/ml), prolactin (9.1 vs. 8.8 ng/ml), and estradiol (19.4 vs. 22.3 pg/ml) did not show any significant difference when comparing patients with and without successful sperm retrieval. Partial deletion of azoospermic factor c (AZFc) was noted in 5 (20.8%) of 24 patients with successful sperm retrieval, including three b2/b3 and two gr/gr deletion cases, whereas 4 (9.5%) of 42 patients with unsuccessful sperm retrieval were noted to have AZFc partial deletion (one b2/b3 , one sY1206 and two gr/gr deletion), though the difference was not statistically significant (p=0.27) Conclusion According to present results, age and AZFc partial deletion status should not be a deterrent for azoospermic males with non-mosaic Klinefelter syndrome to undergo mTESE.

scholarly journals Do partial AZFc deletions affect the sperm retrieval rate in non-mosaic Klinefelter patients undergoing microdissection testicular sperm extraction?

2019 ◽  
Author(s):  
I-Shen Huang ◽  
Richard J Fantus ◽  
Wei-Jen Chen ◽  
James Wren ◽  
Wei-Tang Kao ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Testicular Sperm Extraction ◽  
Chromosome Deletion ◽  
Testicular Sperm ◽  
Partial Deletion ◽  
Sperm Retrieval ◽  
Predictive Values ◽  
Retrieval Rate ◽  
Significant Difference ◽  
Factor C

Abstract Background The purpose of this study is to evaluate the prognostic factors for sperm retrieval and determine if Y chromosome deletion is associated with deleterious effects. Whether Y chromosome deletion determines the sperm retrieval rate in non-mosaic Klinefelter patients has not yet been addressed.Methods We retrospectively collected medical records of azoospermic patients from Sep 2009 to Dec 2018, and enrolled 66 non-mosaic 47, XXY patients who were receiving mTESE. The predictive values of patients age, serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, prolactin, estradiol and Y chromosome deletion were assessed for successful sperm recovery.Results Testicular sperm recovery was successful in 24 (36.4%) of 66 men. The mean age (36.0 vs. 36.6 years), and levels of FSH (30.0 vs 36.9 IU/L), LH (17.7 vs 21.9 IU/L), testosterone (2.4 vs. 2.1 ng/ml), prolactin (9.1 vs. 8.8 ng/ml), and estradiol (19.4 vs. 22.3 pg/ml) did not show any significant difference when comparing patients with and without successful sperm retrieval. Partial deletion of azoospermic factor c (AZFc) was noted in 5 (20.8%) of 24 patients with successful sperm retrieval, including three b2/b3 and two gr/gr deletion cases, whereas 4 (9.5%) of 42 patients with unsuccessful sperm retrieval were noted to have AZFc partial deletion (one b2/b3 , one sY1206 and two gr/gr deletion), though the difference was not statistically significant (p=0.27)Conclusion According to present results, age and AZFc partial deletion status should not be a deterrent for azoospermic males with non-mosaic Klinefelter syndrome to undergo mTESE.

Sign in / Sign up

Export Citation Format

Share Document